NCIt Code NCIt PT Subset PT Subset SY NCIt Definition Subset Definition NCIt Code of First Parent First Parent NCIt Code of Second Parent Second Parent NCIt Code of Subset PT of NICHD Subset Subset Antiquated PT Subset Antiquated SY C101222 Complete Trisomy 21 Syndrome Complete Trisomy 21 Syndrome Down Syndrome A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism. C2950 Chromosomal Abnormality C118467 Pediatric Endocrine Terminology C101362 Complete Trisomy 18 Syndrome Trisomy 18 Complete Trisomy 18 Syndrome|Edwards Syndrome A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound mental retardation and severe malformations. Individuals with this syndrome rarely live past one year. A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. C2950 Chromosomal Abnormality C118467 Pediatric Endocrine Terminology C103186 Sexual Differentiation Disorder Differences of Sex Development CARD|Conditions Affecting Reproductive Development|DSD|Disorder of Sexual Differentiation|Disorders of Sex Development|Intersex|Intersex Conditions|Sexual Differentiation Disorder A congenital disorder characterized by abnormalities in the development of the sexual characteristics. Congenital conditions in which there is variation in the number and/or structure of the sex chromosomes, and/or in which the development of gonadal, reproductive, and/or genital structures is atypical. C89330 Developmental Disorder C103185 Congenital Reproductive System Abnormality C118467 Pediatric Endocrine Terminology C110940 Panhypopituitarism Panhypopituitarism Complete Hypopituitarism Insufficient production of all the anterior pituitary hormones. A deficiency of all anterior pituitary hormones, without necessary involvement of the hormones of the posterior pituitary gland (oxytocin and vasopressin). C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C112834 Growth Hormone Excess Growth Hormone Excess Overproduction of growth hormone, a protein-based peptide that stimulates growth, cell reproduction, and cell regeneration. Persistently elevated serum concentration of growth hormone. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C112835 Growth Hormone Deficiency Growth Hormone Deficiency GH Deficiency|Somatotropin Deficiency Insufficient production of growth hormone. Insufficient growth hormone secretion. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C112836 Thyroid Storm Thyroid Storm Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. An acute complication of hyperthyroidism characterized by fever, tachycardia, nausea, agitation and/or coma that may result in death. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C112840 Adrenal Crisis Adrenal Crisis A life threatening condition due to inadequate levels of glucocorticoids in an individual with adrenal insufficiency. A life threatening condition due to inadequate concentration of glucocorticoids characterized by loss of vascular tone leading to hypotension, tachycardia, and eventual cardiovascular collapse. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113099 Pediatric Failure to Thrive Pediatric Failure to Thrive Failure to Thrive Less than normal weight gain in an infant or child, which may include poor linear and head growth. Suboptimal weight gain in an infant or child, which, if severe and/or prolonged, may lead to impaired linear and head growth. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113100 Growth Failure Growth Failure Linear Growth Failure Less than normal linear growth in an infant or child. Subnormal linear growth rate in an infant, child, or adolescent based on the normative values for the age and sex of the reference population. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113101 Insulin Resistance Insulin Resistance Decreased sensitivity to circulating insulin which may result in acanthosis nigicrans, elevated insulin level or hyperglycemia. Decreased insulin signaling such that the glycemic response to a given amount of insulin is reduced. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113104 Hyperinsulinemia Hyperinsulinemia Abnormally high levels of insulin in the blood. Blood insulin concentrations above the reference range for age. C36292 Laboratory Test Result C118467 Pediatric Endocrine Terminology C113143 Primary Hypothyroidism Primary Hypothyroidism Abnormally low levels of thyroid hormones due to a disorder originating within the thyroid gland. Hypothyroidism due to dysfunction of the thyroid gland. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113144 Central Hypothyroidism Central Hypothyroidism Hypothalamic-Pituitary Hypothyroidism|TSH Deficiency|Thyroid Stimulating Hormone Deficiency|Thyrotropin Deficiency Abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis. Subnormal concentrations of thyroid hormone(s) caused by hypothalamic-pituitary dysfunction. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology Secondary Hypothyroidism C113146 Central Hyperthyroidism Central Hyperthyroidism Overproduction of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis. Hyperthyroidism due to a condition originating within the hypothalamic-pituitary axis. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113147 Hashitoxicosis Hashitoxicosis Hashimoto Toxicosis Severe, transient hyperthyroidism associated with Hashimoto thyroiditis. Transient hyperthyroidism associated with Hashimoto thyroiditis. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113168 Hyperprolactinemia Hyperprolactinemia Abnormally high level of prolactin in the blood. Supranormal concentration of prolactin. C36292 Laboratory Test Result C118467 Pediatric Endocrine Terminology C113170 Sick Euthyroid Syndrome Sick Euthyroid Syndrome Euthyroid Sick Syndrome Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. A pattern of thyroid function tests associated with a non-thyroidal illness in which triiodothyronine is low while reverse triiodothyronine is elevated. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113171 Transient Hypothyroxinemia of Prematurity Transient Hypothyroxinemia of Prematurity Hypothyroxinemia of Prematurity|THOP|Transient Congenital Hypothyroidism A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. A congenital condition in which the function of the thyroid gland is transiently impaired, resulting in a subnormal concentration(s) of thyroid hormone(s) in the neonatal period. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113172 Primary Adrenal Insufficiency Primary Adrenal Insufficiency A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary. Adrenal insufficiency due to a condition originating within the adrenal glands. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113203 Adrenal Androgen Deficiency Adrenal Androgen Deficiency Adrenal Hypoandrogenism Abnormally low or absent secretion of the androgen precursor hormones dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione, from the adrenal gland. Reduced concentrations of the adrenal androgens dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113206 Hypoaldosteronemia Aldosterone Deficiency Hypoaldosteronemia|Hypoaldosteronism|Mineralocorticoid Deficiency Abnormally low levels of aldosterone in the blood. Reduced or absent secretion of mineralocorticoids, primarily aldosterone. C36292 Laboratory Test Result C118467 Pediatric Endocrine Terminology C113210 Cushing Disease Cushing Disease ACTH Producing Pituitary Adenoma|Cushing's Disease Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. Cushing syndrome due to an adrenocorticotropic hormone-producing adenoma in the pituitary gland. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113213 Hyperaldosteronism Hyperaldosteronism Aldosteronism Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. The condition that results from prolonged exposure to a supranormal concentration of aldosterone, characterized by hypertension, and may include hypokalemia. C36292 Laboratory Test Result C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113214 Primary Hypoparathyroidism Primary Hypoparathyroidism Abnormally low levels of parathyroid hormone due to a disorder originating within the parathyroid glands. Hypoparathyroidism due to a condition originating within the parathyroid glands. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113215 Androgen Excess Hyperandrogenism Androgen Excess Excessive secretion of androgens from the adrenal glands or gonads. Clinical manifestations may include virilization. Excessive secretion of androgens by the adrenal glands and/or gonads. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113217 Gonadotropin-Dependent Precocious Puberty Gonadotropin-Dependent Precocious Puberty Central Precocious Puberty|Gonadotropin-releasing Hormone-dependent Precocious Puberty|True Precocious Puberty Premature onset of sexual development triggered by the premature secretion of gonadotropins. Precocious puberty due to premature activation of the hypothalamic-pituitary-gonadal axis. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113219 Gonadotropin-Independent Precocious Puberty Gonadotropin-Independent Precocious Puberty Peripheral Precocious Puberty Premature development of secondary sexual characteristics due to the presence of sex steroids independent of pituitary gonadotropin release. Precocious puberty due to increased secretion of gonadal sex steroids independent of pituitary gonadotropin release. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113335 Secondary Hyperparathyroidism Secondary Hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. Overproduction of parathyroid hormone in response to a condition originating extrinsic to the parathyroid glands. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113336 Pubertal Failure Pubertal Failure Abnormally absent or incomplete sexual development. Onset of pubertal development followed by failure to complete sexual maturation. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113337 Premature Adrenarche Premature Adrenarche Premature onset of adrenal androgen-mediated secondary sexual characteristics. Premature onset of adrenal androgen secretion resulting in early development of androgen mediated secondary sexual characteristics. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113339 Primary Amenorrhea Primary Amenorrhea Delayed Menarche Abnormally late or absent menarche in a female with normal secondary sexual characteristics. Abnormally late or absent menarche in a female with normal secondary sexual characteristics. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113340 Secondary Amenorrhea Secondary Amenorrhea The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal. Amenorrhea in the setting of the following factors: occurring after the onset of menarche; persisting for six months or more; occurring in the absence of pregnancy, breastfeeding, or menopause. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113342 Premature Thelarche Premature Thelarche Isolated breast development prior to the normal age of pubertal onset in females. Onset of breast development before the lower limit of the normal age of onset of breast development in girls without other signs of puberty. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113343 Galactorrhea Galactorrhea Nipple Discharge Excessive secretion of breast milk. Milky discharge from the nipple unrelated to lactation. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113347 Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism Central Hypogonadism Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. Hypogonadism due to an intrinsic deficiency of gonadotropin secretion. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology Secondary Hypogonadism C113348 Hypergonadotropic Hypogonadism Hypergonadotropic Hypogonadism Primary Gonadal Failure Ovarian or testicular dysfunction associated with high levels of gonadotropins. Ovarian or testicular dysfunction that results in high concentrations of gonadotropins. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113351 Ovarian Failure Ovarian Failure The inability of the ovaries to function. Failure of ovarian hormone production and oogenesis. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C113352 Primary Ovarian Failure Primary Ovarian Failure Hypergonadotropic Hypogonadism (Female) Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. Absent or premature cessation of ovarian function due to an issue originating within the ovaries. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C113814 Autoimmune Primary Adrenal Insufficiency Autoimmune Adrenalitis Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands. Addison disease due to autoimmune destruction of the adrenal glands. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C114821 Tertiary Hyperparathyroidism Tertiary Hyperparathyroidism An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism. Unregulated secretion of parathyroid hormone following prolonged secondary hyperparathyroidism. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C114875 Fetus Small for Gestational Age Fetus Small for Gestational Age Fetal Growth Restriction|Fetal SGA|Fetal Small for Gestational Age|IUGR|Intrauterine Growth Restriction A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. C92711 Fetal Finding C118467 Pediatric Endocrine Terminology C114899 Transient Neonatal Diabetes Mellitus Transient Neonatal Diabetes Mellitus Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset. Neonatal diabetes mellitus that resolves spontaneously. C99248 Neonatal Diabetes Mellitus C118467 Pediatric Endocrine Terminology C114902 Permanent Neonatal Diabetes Mellitus Permanent Neonatal Diabetes Mellitus Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that does not resolve spontaneously. Monogenic neonatal diabetes mellitus that does not resolves spontaneously. C99248 Neonatal Diabetes Mellitus C118467 Pediatric Endocrine Terminology C114934 Small for Gestational Age Small for Gestational Age Small For Dates Baby A newborn infant who has weight and/or length at birth more than two standard deviations below the mean for the reference population of the same sex and gestational age. Weight and/or length at birth more than two standard deviations below the mean for the reference population of the same sex and gestational age. C34941 Pregnancy Complication C118467 Pediatric Endocrine Terminology C115326 Pearson Syndrome Pearson Syndrome Pearson Marrow-Pancreas Syndrome The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease. The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease. C28193 Syndrome C118467 Pediatric Endocrine Terminology C117312 Breast Engorgement in Newborn Breast Engorgement in Newborn Neonatal Breast Enlargement Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. Transient swelling of breast tissue in a neonate that results from the influence of waning maternal estrogen. C118807 Newborn or Infant Finding C118467 Pediatric Endocrine Terminology C118423 Infantile Cortical Hyperostosis Infantile Cortical Hyperostosis Caffey Disease A self-limited inflammatory disorder of unknown etiology found in infants that causes swelling of the soft tissue, changes to bone, and irritability. An autosomal dominant condition caused by mutation(s) in the COL1A1 gene encoding the collagen alpha-1(I) chain. This disease is an acute inflammatory condition of infancy that causes soft tissue swelling (mostly of chin/cheeks), bone thickening/widening (particularly of the mandible/clavicles/long bones), pain, and irritability. This disease generally resolves by the 3rd year of life, although some bony deformity may persist. C89328 Pediatric Disorder C118467 Pediatric Endocrine Terminology C118434 Albright's Hereditary Osteodystrophy Albright Hereditary Osteodystrophy A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism. Generalized osteodystrophy associated with heterozygous inactivating mutation(s) in the GNAS gene encoding guanine nucleotide-binding protein, alpha-stimulating (Gs-alpha), characterized by short stature, subcutaneous ossification, and skeletal anomalies. If the mutation is on the paternal allele, hormone resistance is absent. If the mutation is on the maternal allele, hormone resistance is present. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C118469 Growth Failure of Unknown Etiology Growth Failure of Unknown Etiology Subnormal linear growth rate in an infant, child or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown. Subnormal linear growth rate in an infant, child, or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C118470 Failure of Catch-Up Growth Failure of Catch-Up Growth Failure to achieve a linear growth rate sufficient to restore height to within the normative range for the reference population. Failure to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C118632 Bardet-Biedl Syndrome Bardet-Biedl Syndrome Laurence-Moon Syndrome|Laurence-Moon-Bardet-Biedl Syndrome|Laurence-Moon-Biedl Syndrome An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills. A collection of autosomal recessive syndromes with similar phenotypes associated with mutations in at least one BBS gene. Clinical characteristics of this genetically heterogenous syndrome may include, but are not limited to, obesity, diabetes, hand anomalies, retinal dystrophy, genital anomalies, developmental delay, hypertension, and hypercholesterolemia. C28193 Syndrome C118467 Pediatric Endocrine Terminology C118678 Acquired Growth Hormone Deficiency Acquired Growth Hormone Deficiency Growth hormone deficiency that is not present at birth; this condition may result from a variety of causes such as intracranial tumors or their treatment, infection, trauma or other cause. Growth hormone deficiency, the cause of which is not present at birth. C112835 Growth Hormone Deficiency C118467 Pediatric Endocrine Terminology C118679 Congenital Growth Hormone Deficiency Congenital Growth Hormone Deficiency Growth hormone deficiency the cause of which is present at birth. Growth hormone deficiency, the cause of which is present at birth. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C118680 Growth Hormone Neurosecretory Dysfunction Growth Hormone Neurosecretory Dysfunction Reduced spontaneous secretion of growth hormone with normal range response to growth hormone provocative stimuli. Reduced spontaneous secretion of growth hormone with normal range response to growth hormone provocative stimuli. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C118682 Idiopathic Isolated Growth Hormone Deficiency Idiopathic Isolated Growth Hormone Deficiency Insufficient secretion of growth hormone for which no underlying cause can be found. Growth hormone deficiency for which no underlying cause can be identified. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C118683 Iatrogenic Growth Failure Iatrogenic Growth Failure Growth failure due to medical intervention. Growth failure due to medical intervention. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C118686 Short Stature Short Stature Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual. Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual. C3367 Finding C118467 Pediatric Endocrine Terminology C118688 Familial Idiopathic Short Stature Familial Idiopathic Short Stature Constitutional Short Stature Idiopathic short stature in a child when either one or both parents is short in stature. Idiopathic short stature in a child when either one or both parents is short in stature. C118686 Short Stature C118467 Pediatric Endocrine Terminology C118689 Idiopathic Short Stature Idiopathic Short Stature ISS Height greater than two standard deviations below the mean for the age and sex of the reference population. Height less than two standard deviations below the mean for the age and sex of the reference population for the age and sex of the individual for which no underlying cause can be identified. C118686 Short Stature C118467 Pediatric Endocrine Terminology C118690 Non-familial Idiopathic Short Stature Non-Familial Idiopathic Short Stature Idiopathic short stature in a child when neither parent is short in stature. Idiopathic short stature in a child when neither parent is short in stature. C118686 Short Stature C118467 Pediatric Endocrine Terminology C118691 Tall Stature Tall Stature Height greater than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual. Height greater than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual. C3367 Finding C118467 Pediatric Endocrine Terminology C118692 Idiopathic Tall Stature Idiopathic Tall Stature Tall stature for which no underlying cause can be found. Height more than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual for which no underlying cause can be identified. C118691 Tall Stature C118467 Pediatric Endocrine Terminology C118693 Familial Idiopathic Tall Stature Familial Idiopathic Tall Stature Constitutional Tall Stature|Familial Tall Stature Idiopathic tall stature in a child when either one or both parents is tall in stature. Idiopathic tall stature in a child when either one or both parents is tall in stature. C118691 Tall Stature C118467 Pediatric Endocrine Terminology C118695 Non-familial Idiopathic Tall Stature Non-Familial Idiopathic Tall Stature Idiopathic tall stature in a child when neither parent is tall in stature. Idiopathic tall stature in a child when neither parent is tall in stature. C118691 Tall Stature C118467 Pediatric Endocrine Terminology C118697 Hypochondroplasia Hypochondroplasia An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia. A condition phenotypically similar to, but milder than, achondroplasia that is often caused by mutations in the FGFR3 gene. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C118698 Small for Gestational Age for Weight Small for Gestational Age for Weight SGA for Weight Birth weight greater than two standard deviations below the mean for the reference population of the same sex and gestational age. Birth weight greater than two standard deviations below the mean for the reference population of the same sex and gestational age. C114934 Small for Gestational Age C118467 Pediatric Endocrine Terminology C118699 Small for Gestational Age for Length Small for Gestational Age for Length SGA for Length Birth length greater than two standard deviations below the mean for the reference population of the same sex and gestational age. Birth length greater than two standard deviations below the mean for the reference population of the same sex and gestational age. C114934 Small for Gestational Age C118467 Pediatric Endocrine Terminology C118700 Small for Gestational Age for Weight and Length Small for Gestational Age for Weight and Length SGA for Weight and Length Birth weight and length greater than two standard deviations below the mean for the reference population of the same sex and gestational age. Birth weight and length greater than two standard deviations below the mean for the reference population of the same sex and gestational age. C114934 Small for Gestational Age C118467 Pediatric Endocrine Terminology C118702 Small for Gestational Age with Failure of Catch-Up Growth Small for Gestational Age with Failure of Catch-up Growth A condition in which a child who was born small for gestational age, fails to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population. A condition in which a child who was born small for gestational age fails to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population. C114934 Small for Gestational Age C118467 Pediatric Endocrine Terminology C118843 Allan-Herndon-Dudley Syndrome Monocarboxylate Transporter 8 Deficiency Allan-Herndon-Dudley Syndrome|MCT8-Specific Thyroid Hormone Cell Membrane Transporter Deficiency A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity. An X-Linked condition caused by mutation(s) in the SLC16A2 gene, characterized by elevated triiodothyronine (T3) and decreased reverse T3 concentrations due to inability to transport T3 across cell membranes. Clinical manifestations include severe cognitive deficits, hypotonia, and muscular hypoplasia. C28193 Syndrome C118467 Pediatric Endocrine Terminology C119996 Pediatric Osteoporosis Pediatric Osteoporosis Idiopathic Juvenile Osteoporosis The finding of one or more vertebral compression (crush) fractures in the absence of local disease or high-energy trauma or the presence of both a clinically significant fracture history and BMD Z-score less than or equal to -2.0. A clinically significant fracture history is one or more of the following: 1) two or more long bone fractures by age ten years; 2) three or more long bone fractures at any age up to age nineteen years. (from 2013 International Society for Clinical Densitometry definition of Osteoporosis-Pediatric) Osteoporosis of unknown etiology that presents in childhood. C107377 Musculoskeletal System Disorder C118467 Pediatric Endocrine Terminology C120106 Insulin Growth Factor I Deficiency Insulin Growth Factor I Deficiency IGF-I Deficiency|IGF1 Deficiency|Insulin-like Growth Factor I Deficiency Insufficient circulating insulin-like growth factor-I. Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGF1 gene, encoding insulin-like growth factor I (IGF-I). This condition is characterized by severe prenatal and/or postnatal growth failure, sensorineural deafness, neurocognitive deficiencies, and elevated GH concentrations accompanied by low IGF-I concentrations. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120107 Insulin Growth Factor I Resistance Insulin Growth Factor I Resistance IGF-I Resistance|IGF1R|Somatomedin-C Resistance Tissue unresponsiveness to insulin-like growth factor-I. Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGF1R gene, encoding insulin-like growth factor 1 receptor. This phenotypically variable condition is characterized by clinical features similar to insulin-like growth factor I (IGF-I) deficiency accompanied by increased serum concentrations of IGF-I. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120113 Short Stature Homeobox Deficiency SHOX Deficiency A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature. A skeletal dysplasia due to mutation(s) in the promoter or coding regions of the SHOX gene, located in the pseudoautosomal regions of the X and Y chromosomes, and encoding short stature homeobox protein. This condition may result in reduced expression or function of the SHOX protein. The severity of the clinical features is dependent upon whether one or both copies of the gene are affected. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120114 Acid-Labile Subunit Deficiency Acid-Labile Subunit Deficiency ALS Deficiency Reduced serum concentration of the acid-labile subunit (ALS, a protein encoded by the IGFALS gene) of the complex usually comprised of IGF-I, IGFBP-3 and ALS. Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGFALS gene, encoding insulin-like growth factor-binding protein complex acid labile subunit protein (ALS). ALS forms a ternary complex with insulin-like growth factor I (IGF-I) and insulin-like growth factor-binding protein 3 (IGFBP-3), which prolongs the half life of both IGF-I and IGFBP-3 in the circulation. This condition is characterized by mild growth impairment, variable presence of pubertal delay in boys, and insulin insensitivity due to markedly reduced concentrations of free and total serum IGF-I and IGFBP-3. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120115 Organic Growth Hormone Deficiency Organic Growth Hormone Deficiency Growth hormone deficiency due to an identifiable biological cause. Growth hormone deficiency due to an identifiable biological cause. C112835 Growth Hormone Deficiency C118467 Pediatric Endocrine Terminology C120143 Familial Male Precocious Puberty Familial Male Precocious Puberty Familial Testotoxicosis|Gonadotropin-independent Familial Sexual Precocity|Male-limited Precocious Puberty|Testotoxicosis Early development of isosexual secondary characteristics in boys, due to autosomal dominant mutations in the LHCGR gene. Early development of isosexual secondary characteristics in boys due to autosomal dominant mutations in the LHCGR gene. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120144 P450-Aromatase Deficiency P450-Aromatase Deficiency Aromatase deficiency Deficiency of activity of the enzyme aromatase, which converts androgens to estrogens. Decreased activity of the steroidogenic enzyme, P450 aromatase, associated with mutation(s) in the CYP19A1 gene, resulting in reduced estrogen production. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120146 Ovarian Hyperandrogenism Ovarian Hyperandrogenism Increased production of androgens by the ovaries. Increased production of androgens by the ovaries. C26841 Ovarian Disorder C118467 Pediatric Endocrine Terminology C120148 Pubertal Gynecomastia Pubertal Gynecomastia Transient Gynecomastia Gynecomastia that occurs during puberty and is not due to exogenous substances or disease processes. Gynecomastia that occurs during puberty and is not due to exogenous substances or disease processes. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120160 Female Virilization Virilization in Girls Female Virilization The development of male secondary sexual characteristics (such as hirsutism, deepening of the voice, or clitoral enlargement) in girls or adult females. The development of male secondary sexual characteristics (such as hirsutism, deepening of the voice, or clitoral enlargement) in girls. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120161 Congenital Hypergonadotropic Hypogonadism Congenital Hypergonadotropic Hypogonadism Ovarian or testicular dysfunction associated with high levels of gonadotropins, that is present at birth. Hypergonadotropic hypogonadism, the cause of which is present at birth. C9227 Hypogonadism C118467 Pediatric Endocrine Terminology C120162 Congenital Hypogonadotropic Hypogonadism Congenital Hypogonadotropic Hypogonadism Insufficient production of estrogen or testosterone in the ovaries or testes due to decreased secretion of gonadotropins as a result of pituitary or hypothalamus gland dysfunction that is present at birth. Hypogonadotropic hypogonadism, the cause of which is present at birth. C9227 Hypogonadism C118467 Pediatric Endocrine Terminology C120163 Pathological Gynecomastia Pathological Gynecomastia Breast Enlargement Gynecomastia that is due to exogenous substances or disease processes. Gynecomastia that is due to exogenous substances or disease processes. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120164 Isolated Premature Menarche Premature Menarche Isolated Premature Menarche Occurrence of the first menstrual period in a girl before the lower limit of the normal age range for the reference population, without other signs of puberty. Menstrual bleeding before the expected age of menarche in the absence of physical signs of pubertal development. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120165 Idiopathic Precocious Puberty Idiopathic Precocious Puberty Precocious puberty for which no underlying cause can be identified. Precocious puberty for which no underlying cause can be identified. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120187 Contrasexual Sexual Development Contrasexual Sexual Development The development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls). The development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls). C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C120188 Persistent Mullerian Duct Syndrome Persistent Mullerian Duct Syndrome Hernia Uteri Inguinale The presence of Mullerian duct-derived structures in a phenotypically male individual. The presence of Mullerian duct-derived structures in a phenotypically male individual. C28193 Syndrome C118467 Pediatric Endocrine Terminology C120189 Persistent Mullerian Duct Syndrome Type I Persistent Mullerian Duct Syndrome Type 1 Anti-Mullerian Hormone Deficiency|Persistent Müllerian Duct Syndrome Type 1 Persistent Mullerian duct syndrome due to deficiency of anti-Mullerian hormone. Persistent Mullerian duct syndrome due to deficiency of anti-Mullerian hormone. C28193 Syndrome C118467 Pediatric Endocrine Terminology C120190 Persistent Mullerian Duct Syndrome Type II Persistent Mullerian Duct Syndrome Type 2 Anti-Mullerian Hormone Resistance Persistent Mullerian duct syndrome due to resistance to anti-Mullerian hormone (AMH), resulting from mutations in the AMH receptor (AMHR) gene. Persistent Mullerian duct syndrome due to resistance to anti-Mullerian hormone (AMH), resulting from mutations in the AMH receptor (AMHR) gene. C28193 Syndrome C118467 Pediatric Endocrine Terminology C120193 5-Alpha-Reductase Deficiency 5-Alpha-Reductase Deficiency Deficiency of 5-alpha-reductase type 2 in genital tissues resulting in reduced local concentration of dihydrotestosterone (DHT). Decreased 5-alpha-reductase type 2 in genital tissues resulting in reduced local concentration of dihydrotestosterone (DHT). C120206 Reductase Deficiency C118467 Pediatric Endocrine Terminology C120194 46,XY Disorder of Androgen Action 46,XY Disorder of Androgen Action Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced. Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced . C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C120197 46,XX Gonadal Dysgenesis 46,XX Gonadal Dysgenesis 46,XX Ovarian Dysgenesis Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype. Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C120198 46,XY Gonadal Dysgenesis 46,XY Gonadal Dysgenesis Swyer Syndrome Gonadal dysgenesis in an individual with 46.XY karyotype. Gonadal dysgenesis in an individual with 46,XY karyotype and female phenotype. There is an increased risk of gonadal tumor. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C120199 45,X/46,XY Mixed Gonadal Dysgenesis 45,X/46,XY Gonadal Dysgenesis 45,X/46,XY Disorder of Sex Development|45,X/46,XY Mixed Gonadal Dysgenesis|Mixed Gonadal Dysgenesis A congenital condition characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. 45,X/46,XY mosaic is the most common form of mixed gonadal dysgenesis. Gonadal dysgenesis in an individual with 45,X/46,XY mosaic karyotype with a variable phenotype. The gonads are dysgenetic and asymmetric, and can comprise elements of testicular tissue, ovarian tissue, streak gonad, or a combination, such as dysgenetic testis on one side and streak on the other. There is an increased risk of gonadal tumor. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C120200 Testicular Regression Testicular Regression Gonadal Regression|Vanishing Testes A condition characterized by typical male genital appearance in a 46,XY individual in whom testes are unable to be located. A condition characterized by typical male genital appearance in a 46,XY individual in whom testes are unable to be located. C26890 Testicular Disorder C118467 Pediatric Endocrine Terminology C120202 Placental Aromatase Deficiency Placental Aromatase Deficiency An autosomal recessive condition that results in aromatase deficiency in the placenta, causing temporary virilization of the pregnant woman and virilization of her 46,XX fetus. An autosomal recessive condition that results in decreased placental aromatase activity, causing temporary virilization of the pregnant woman and virilization of her 46,XX fetus. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17 beta HSD3 Deficiency Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. Decreased activity of the steroidogenic enzyme 17-beta-hydroxysteroid dehydrogenase, which is associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C120204 Defect in the Gene for MIS Type II Receptor Defect in the Gene for MIS Type 2 Receptor A defect in the MISR II gene. A defect in the MISR II gene. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C120205 Acampomelic Campomelic Dysplasia Acampomelic Campomelic Dysplasia (AQ) A variant of campomelic dysplasia characterized by the absence of skeletal dysplasia. A variant of campomelic dysplasia characterized by the absence of skeletal dysplasia. C84609 Campomelic Dysplasia C118467 Pediatric Endocrine Terminology C120206 Reductase Deficiency Reductase Deficiency A deficiency in an enzyme that promotes reduction of an organic compound. A decrease in an enzyme that promotes reduction of an organic compound. C34816 Congenital Metabolic Disorder C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C120369 Acquired Hypogonadotropic Hypogonadism Acquired Hypogonadotropic Hypogonadism Hypogonadotropic hypogonadism, the cause of which is not present from birth. Hypogonadotropic hypogonadism, the cause of which is not present from birth. C9227 Hypogonadism C118467 Pediatric Endocrine Terminology C120370 Follicle Stimulating Hormone Receptor Deficiency Follicle Stimulating Hormone Receptor Deficiency FSH Receptor Deficiency Reduced or absent function of the receptor for follicle stimulating hormone associated with a mutation in the FSHR gene. A condition caused by a functional disturbance of the gonadotropin receptors in the ovarian follicles, which can result in primary or secondary amenorrhea, and which is resistant to exogenous gonadotropin stimulation. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120371 Bio-Inactive Somatotropin Bio-Inactive Somatotropin Bio-inactive Growth Hormone Bio-inactive somatotropin is encoded by mutated forms of the human GH1 gene. This protein lacks biological activity and is associated with a phenotype of functional growth hormone deficiency. Growth hormone that lacks biological activity resulting in a phenotype of functional growth hormone deficiency. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120372 Idiopathic Central Precocious Puberty Idiopathic Central Precocious Puberty Central precocious puberty for which no underlying cause can be identified. Central precocious puberty for which no underlying cause can be identified. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120373 Sex Hormone-Binding Globulin Deficiency Sex Hormone-Binding Globulin Deficiency Subnormal concentration of the glycoprotein, sex hormone-binding globulin (SHBG), the primary transport protein for androgens and estrogens in serum, resulting in reduced concentrations of total sex steroids, but minimal change in concentrations of free sex steroids. Subnormal concentration of the glycoprotein sex hormone-binding globulin (SHBG), the primary transport protein for androgens and estrogens in serum, resulting in reduced concentrations of total sex steroids, but minimal change in concentrations of free sex steroids. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120374 DAX1 Deficiency DAX1 Deficiency Cytomegalic Form of AHC|Dosage Sensitive Sex Reversal - Adrenal Hypoplasia Congenita Critical Region On The X Chromosome 1 Deficiency|Nuclear Receptor Subfamily 0 Group B Member 1 Deficiency Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s) in the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita that may be associated with hypogonadotropic hypogonadism. Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s) in the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita, which may be associated with hypogonadotropic hypogonadism. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120375 Disorder of Androgen Synthesis Disorder of Androgen Synthesis Androgen Biosynthesis Defect An enzyme deficiency in the androgen biosynthesis pathway, resulting in the underproduction of one or more androgens by the adrenal glands and/or gonads. An enzyme deficiency in the androgen biosynthesis pathway, resulting in the underproduction of one or more androgens by the adrenal glands and/or gonads. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120376 Mullerian Aplasia and Hyperandrogenism WNT4 Deficiency Mullerian Aplasia and Hyperandrogenism Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C120377 Childhood Overweight Childhood Overweight A condition in which a child's body mass index (BMI) falls at or above the 85th percentile, but below the 95th percentile based on the normative values for the age and sex of the reference population. A condition in which a child's body mass index (BMI) falls at or above the 85th percentile, but below the 95th percentile based on the normative values for the age and sex of the reference population. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120378 Iatrogenic Obesity Iatrogenic Obesity Obesity resulting from medical treatment or intervention. Obesity resulting from medical treatment or intervention. C3367 Finding C118467 Pediatric Endocrine Terminology C120379 Polygenic Obesity Polygenic Obesity Obesity associated with variations in multiple genes. Obesity associated with presumed variations in multiple genes. C3367 Finding C118467 Pediatric Endocrine Terminology C120380 Exogenous Obesity Exogenous Obesity Common Obesity|Simple Obesity Obesity caused by caloric intake greater than caloric expenditures. Obesity caused by caloric intake greater than caloric expenditures. C3367 Finding C118467 Pediatric Endocrine Terminology C120381 Central Obesity Central Obesity Central Adiposity|Truncal Obesity Obesity in which excess fat is accumulated primarily in the area of the abdomen. Obesity in which excess fat is accumulated primarily in the area of the abdomen. C3367 Finding C118467 Pediatric Endocrine Terminology C120382 Monogenic Obesity Monogenic Obesity Obesity associated with an identifiable mutation in a single gene. Obesity caused by an identifiable mutation in a single gene. C3367 Finding C118467 Pediatric Endocrine Terminology C120383 Melanocortin Pathway Defect Melanocortin Pathway Defects An abnormality in the biochemical pathway involving the melanocortins, a group of peptide hormones associated with anorexogenic signaling in the brain and hypothalamus. An abnormality in the biochemical pathway involving the melanocortins, a group of peptide hormones associated with anorexogenic signaling in the brain stem and hypothalamus. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C120384 Leptin Deficiency Leptin Deficiency Deficiency of the adipose tissue-derived peptide hormone leptin, associated with loss-of-function mutation(s) in the LEP gene. Deficiency of the adipose tissue-derived peptide hormone leptin, which is associated with loss-of-function mutation(s) in the LEP gene. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120385 Brain-Derived Neurotropic Factor Deficiency Brain-Derived Neurotropic Factor Deficiency Presumed deficiency of brain-derived neurotropic factor (BDNF), associated with loss-of-function mutation(s) in the BDNF gene. Presumed deficiency of brain-derived neurotropic factor (BDNF), associated with loss-of-function mutation(s) in the BDNF gene. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120386 Leptin Receptor Deficiency Leptin Receptor Deficiency Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene. Deficiency or dysfunction of the leptin receptor, which is associated with loss-of-function mutation(s) in the LEPR gene. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120393 Pro-Opiomelanocortin Deficiency Pro-Opiomelanocortin Deficiency POMC Deficiency Deficiency of the hormone precursor, pro-opiomelanocortin, associated with loss-of-function mutation(s) in the POMC gene. Deficiency of the hormone precursor pro-opiomelanocortin, which is associated with loss-of-function mutation(s) in the POMC gene. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120394 Melanocortin 4 Receptor Deficiency Melanocortin 4 Receptor Deficiency MC4R Deficiency Deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the MCFR4 gene. Deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the MCR4 gene. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120406 Neurotropic Tyrosine Kinase Receptor Type 2 Deficiency Neurotrophic Tyrosine Kinase, Receptor Type 2 Deficiency NTKR2 Deficiency|Receptor Tyrosine Kinase B|TRKB Deficiency Deficiency or dysfunction of the type 2 receptor for neurotropic tyrosine kinase associated with loss-of-function mutation(s) in the NTKR2 gene. Presumed loss-of-function mutation(s) in the NTKR2 gene, resulting in deficiency or dysfunction of the type 2 receptor for the enzyme neurotropic tyrosine kinase. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120407 Prohormone Convertase 1 Deficiency Prohormone Convertase 1 Deficiency PCSK1 Deficiency|Prohormone Convertase 1/3 Deficiency Deficiency or dysfunction of the enzyme prohormone convertase 1 associated with loss-of-function mutation(s) in the PCSK1 gene. Presumed loss-of-function mutation(s) in the PCSK1 gene, resulting in decreased activity of the enzyme prohormone convertase 1. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120408 Chromosome 16p11.2 Deletion Syndrome Chromosome 16p11.2 Deletion Syndrome A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders. A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay, and autism spectrum conditions. C28193 Syndrome C118467 Pediatric Endocrine Terminology C120409 Maternal Uniparental Disomy Chromosome 14 Syndrome Maternal Uniparental Disomy Chromosome 14 Syndrome Temple Syndrome|mUPD14 Syndrome A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother and no copy of chromosome 14 from the father. C28193 Syndrome C118467 Pediatric Endocrine Terminology C120433 Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone Deficiency ACTH Deficiency|Corticotropin Deficiency Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland. Central hypoadrenalism due to subnormal concentration of adrenocorticotropic hormone (ACTH); the origin of the ACTH deficiency (hypothalamic vs. pituitary dysfunction) is difficult to determine. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology Secondary Adrenal Insufficiency|Secondary Hypoadrenalism C120434 Acquired Adrenocorticotropic Hormone Deficiency Acquired Adrenocorticotropic Hormone Deficiency Acquired ACTH Deficiency Adrenocorticotropic hormone (ACTH) deficiency, the cause of which is not present at birth. Adrenocorticotropic hormone (ACTH) deficiency, the cause of which is not present at birth. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C120437 Congenital Isolated Adrenocorticotropic Hormone Deficiency Congenital Isolated Adrenocorticotropic Hormone Deficiency Congenital Isolated ACTH Deficiency Adrenocorticotropic hormone (ACTH) deficiency due to mutation(s) in the TBX19 gene. Adrenocorticotropic hormone (ACTH) deficiency due to mutation(s) in the TBX19 gene. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120442 Acquired Central Hypothyroidism Acquired Central Hypothyroidism Central hypothyroidism, the cause of which is not present at birth. Central hypothyroidism, the cause of which is not present at birth. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C120446 Isolated Glucocorticoid Deficiency Isolated Glucocorticoid Deficiency Abnormally low or absent production of glucocorticoids, characterized by unresponsiveness to adrenocorticotropic hormone. It is hereditary and potentially lethal. Abnormally low or absent production of glucocorticoids, characterized by unresponsiveness to adrenocorticotropic hormone. It is hereditary and potentially lethal. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C120449 Congenital Isolated Thyroid Stimulating Hormone Deficiency Congenital Isolated Thyroid Stimulating Hormone Deficiency Congenital Isolated TSH Deficiency Thyroid stimulating hormone (TSH) deficiency associated with mutations(s) in the TSHB gene that encodes thyrotropin subunit beta. Thyroid stimulating hormone (TSH) deficiency associated with mutation(s) in the TSHB gene that encodes thyrotropin subunit beta . C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C121140 Hypoprolactinemia Prolactin Deficiency Hypoprolactinemia Subnormal concentration of prolactin. Subnormal concentration of prolactin. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology Lactogenic Hormone Deficiency C121141 Follicle Stimulating Hormone Deficiency Follicle Stimulating Hormone Deficiency FSH Deficiency Subnormal concentration of follicle stimulating hormone. Subnormal concentration of follicle stimulating hormone. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C121142 Isolated Follicle Stimulating Hormone Deficiency Isolated Follicle Stimulating Hormone Deficiency Subnormal concentration of follicle stimulating hormone (FSH), associated with mutations in the FSHB gene, encoding follitropin subunit beta. Subnormal concentration of follicle stimulating hormone (FSH), which is associated with mutations in the FSHB gene, encoding follitropin subunit beta. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C121146 Pituitary Stalk Lesion Pituitary Stalk Lesion An anomaly in the pituitary stalk that can be developmental, inflammatory, infiltrative, iatrogenic or traumatic. An anomaly in the pituitary stalk that can be developmental, inflammatory, infiltrative, iatrogenic, or traumatic. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C121147 Hypophysitis Hypophysitis An inflammatory process in the pituitary gland. An inflammatory process in the pituitary gland. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C121148 Pituitary Abscess Pituitary Abscess An inflammatory or infectious process in the pituitary gland characterized by a circumscribed, walled collection of purulent material. An inflammatory or infectious process in the pituitary gland characterized by a circumscribed, walled collection of purulent material. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C121150 Pituitary Stalk Interruption Syndrome Pituitary Stalk Interruption Syndrome Hypoplastic Anterior Pituitary, Missing Stalk, and Ectopic Posterior Pituitary|PSIS A syndrome characterized by hypoplastic or aplastic anterior pituitary gland, a very thin or interrupted pituitary stalk, and ectopic or absent posterior pituitary gland, which may be associated with mutation(s) in the HESX1 or LHX4 genes. A syndrome characterized by hypoplastic or aplastic anterior pituitary gland, a very thin or interrupted pituitary stalk, and ectopic or absent posterior pituitary gland, which may be associated with mutation(s) in the HESX1 or LHX4 genes. C28193 Syndrome C118467 Pediatric Endocrine Terminology C121151 Ectopic Posterior Pituitary Ectopic Posterior Pituitary Ectopic Neurohypophysis Atypically located posterior pituitary gland that may be associated with anterior or posterior pituitary hormone deficiencies. Atypically located posterior pituitary gland that may be associated with anterior or posterior pituitary hormone deficiencies. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C121152 FSH-Producing Gonadotroph Adenoma Follicle Stimulating Hormone-Producing Adenoma FSH-producing Adenoma An adenoma of the anterior lobe of the pituitary gland that produces follicle-stimulating hormone (FSH). A non-malignant pituitary tumor that produces follicle stimulating hormone. C45915 Gonadotropin-Producing Adenoma C118467 Pediatric Endocrine Terminology C121153 LH-Producing Gonadotroph Adenoma LH-producing Adenoma|Luteinizing Hormone-Producing Adenoma An adenoma of the anterior lobe of the pituitary gland that produces luteinizing hormone (LH). A non-malignant pituitary tumor that produces luteinizing hormone. C45915 Gonadotropin-Producing Adenoma C118467 Pediatric Endocrine Terminology C121156 Mesomelic Dysplasia Mesomelic Dysplasias Mesomelic Dysplasia A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae). A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e. the radii, ulnae, tibiae and fibulae). C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C121618 Germinomatous Germ Cell Tumor Germinomatous Germ Cell Tumor A term that refers to germinoma, seminoma, or dysgerminoma. A malignant germ cell tumor characterized by the presence of primitive, large germ cells and lymphocytes. These tumors (germinoma, seminoma, or dysgerminoma) are histologically identical, and are distinguished only by their location. C3708 Germ Cell Tumor C118467 Pediatric Endocrine Terminology C121619 Nongerminomatous Germ Cell Tumor Nongerminomatous Germ Cell Tumor Non-dysgerminomatous Germ Cell Tumor|Non-germinomatous Germ Cell Tumor|Non-seminomatous Germ Cell Tumor A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors. A germ cell tumor other than a pure germinoma. These tumors (choriocarcinoma, embryonal carcinoma, teratoma, yolk sac tumor, and mixed germ cell tumor) are histologically distinct from one another. C2934 Central Nervous System Disorder C118467 Pediatric Endocrine Terminology C121675 Rhizomelic Dysplasia Rhizomelic Dysplasia A form of skeletal dysplasia characterized by shortening of the bones of the proximal segments of the limbs (i.e. the humeri and femora). A form of skeletal dysplasia characterized by shortening of the bones of the proximal segments of the limbs (i.e. the humeri and femora). C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C121678 Non-Functioning Pituitary Gland Microadenoma Nonfunctional Pituitary Microadenoma A pituitary gland microadenoma not associated with a hormonal syndrome. A non-malignant pituitary tumor with diameter less than 10 millimeters that does not secrete pituitary hormone(s). C4348 Non-Functioning Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C121679 Functioning Pituitary Gland Microadenoma Functional Pituitary Microadenoma A pituitary gland microadenoma associated with a hormonal syndrome. A non-malignant pituitary tumor with diameter less than 10 millimeters that secretes pituitary hormone(s). C3329 Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C121719 Lymphocytic Neurohypophysitis Lymphocytic Neurohypophysitis An autoimmune condition affecting the posterior pituitary gland, which is characterized by lymphocytic infiltration, and which often presents as diabetes insipidus. An autoimmune condition affecting the posterior pituitary gland, which is characterized by lymphocytic infiltration, and which often presents as diabetes insipidus. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C121720 Functioning Pituitary Gland Macroadenoma Functional Pituitary Macroadenoma A pituitary gland macroadenoma associated with a hormonal syndrome. A non-malignant pituitary tumor with diameter 10 millimeters or greater that secretes pituitary hormone(s). C3329 Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C121721 Non-Functioning Pituitary Gland Macroadenoma Nonfunctional Pituitary Macroadenoma A pituitary gland macroadenoma not associated with a hormonal syndrome. A non-malignant pituitary tumor with diameter 10 millimeters or greater that does not secrete pituitary hormone(s). C4348 Non-Functioning Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C121727 Compensated Hypothyroidism Compensated Hypothyroidism Hypothyroidism characterized by elevated thyroid-stimulating hormone (TSH) with normal circulating concentrations of thyroid hormones. Hypothyroidism characterized by elevated thyroid-stimulating hormone (TSH) with normal circulating concentrations of thyroid hormones. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C121741 Hypothalamic Hypothyroidism Hypothalamic Hypothyroidism Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology Tertiary Hypothyroidism C121743 Pituitary Hypothyroidism Pituitary Hypothyroidism Hypothyroidism due to dysfunction of the pituitary gland, which results in inadequate secretion of thyroid-stimulating hormone (thyrotropin). Hypothyroidism due to dysfunction of the pituitary gland, which results in inadequate secretion of thyroid-stimulating hormone (thyrotropin). C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C121745 Pendred Syndrome Pendred Syndrome A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. C28193 Syndrome C118467 Pediatric Endocrine Terminology C121747 Iodide Transport Defect Iodide Transport Defect A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C121748 Dual Oxidase 2 Deficiency Dual Oxidase 2 Deficiency Thyroid peroxidase system defect due to presumed mutation(s) in the DUOX2 gene, resulting in decreased activity of dual oxidase 2. Thyroid peroxidase system defect due to presumed mutation(s) in the DUOX2 gene, resulting in decreased activity of dual oxidase 2. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C121749 Thyroglobulin Deficiency Thyroglobulin Deficiency Subnormal production of thyroglobulin, the glycoprotein precursor of thyroid hormones, presumed to result from loss-of-function mutation(s) in the TG gene. Subnormal production of thyroglobulin, the glycoprotein precursor of thyroid hormones, presumed to result from loss-of-function mutation(s) in the TG gene. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C121750 Thyroid Peroxidase Deficiency Thyroid Peroxidase Deficiency Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C121751 Thyroid Dyshormonogenesis Thyroid Dyshormonogenesis Dyshormonogenesis A defect in any step of the biochemical pathway leading to production of thyroid hormones. A defect in any step of the biochemical pathway leading to production of thyroid hormones. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome ROHHAD A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. A syndrome of unknown etiology characterized by hypothalamic dysfunction with hyperphagia, inability to maintain normal water balance, growth hormone deficiency, hypothyroidism, early or late puberty, increased prolactin concentration, hypoventilation, and autonomic dysfunction. C28193 Syndrome C118467 Pediatric Endocrine Terminology C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome WAGRO Syndrome WAGRO|Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome|Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. A condition resembling WAGR (Wilms tumor, aniridia, genitourinary anomalies and developmental delay) syndrome that also includes obesity. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13-p12 in a region containing the WT1, PAX6 and BDNF genes. C3266 Hereditary Neoplastic Syndrome C118467 Pediatric Endocrine Terminology C122805 Frasier Syndrome Frasier Syndrome A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma. A Wilms tumor 1 gene syndrome caused by a mutation in an intron of the WT1 gene that removes an alternative splice site resulting in loss of one isoform of the Wilms tumor protein. This condition is characterized by focal segmental glomerulosclerosis, gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and a high risk for the development of gonadoblastoma. C28193 Syndrome C118467 Pediatric Endocrine Terminology C123018 Renal Cysts and Diabetes Syndrome Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes RCAD|RCAD Syndrome|Renal Cysts and Diabetes Syndrome Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C28193 Syndrome C118467 Pediatric Endocrine Terminology Maturity Onset Diabetes of the Young, Type 5 C123186 Autosomal Dominant Hypophosphatemia Rickets Autosomal Dominant Hypophosphatemic Rickets Autosomal Dominant Vitamin D-resistant Rickets An autosomal dominant renal phosphate wasting disorder that results in rickets. Hypophosphatemic rickets due to heterozygous mutation(s) in the FGF23 gene, encoding fibroblast growth factor 23, a protein involved in phosphate homeostasis. The altered protein is resistant to cleavage, resulting in elevated FGF23 concentrations; the condition is characterized by isolated renal phosphate wasting, resulting in hypophosphatemia, accompanied by inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) concentrations. C37977 Hypophosphatemia C118467 Pediatric Endocrine Terminology C123187 Autosomal Recessive Hypophosphatemia Rickets Autosomal Recessive Hypophosphatemic Rickets An autosomal recessive renal phosphate wasting disorder that results in rickets. Hypophosphatemic rickets due to inactivating mutation(s) in the DMP1 gene, encoding dentin matrix acidic phosphoprotein 1, or in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) levels. C37977 Hypophosphatemia C118467 Pediatric Endocrine Terminology C123251 Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type 1 PHA1B|Pseudohypoaldosteronism Type I Autosomal Recessive A hereditary, heterogeneous disorder of electrolyte metabolism that is characterized by renal resistance to aldosterone action, resulting in salt wasting, hypotension, hyperkalemia, and metabolic acidosis. An autosomal recessive condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the SCNN1A, SCNN1B, or SCNN1G genes encoding subunits of the epithelial sodium channel (ENaC). C85034 Pseudohypoaldosteronism C118467 Pediatric Endocrine Terminology C12326 Undescended Testes Cryptorchidism Undescended Testes|Undescended Testicle|Undescended Testis The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. The persistent failure of one or both testes to descend into the scrotum. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C118467 Pediatric Endocrine Terminology C123260 Dent Disease X-linked Recessive Hypophosphatemic Rickets Dent Disease An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure. Hypophosphatemic rickets due to mutation(s) in the X-chromosomal CLCN5 gene, encoding H(+)/Cl(-) exchange transporter 5. This condition is expressed in male individuals hemizygous for the mutation(s), and in female individuals homozygous for the mutation(s). The disorder of the proximal renal tubules is characterized by low-molecular weight proteinuria, hypercalciuria, renal phosphate wasting, nephrocalcinosis, nephrolithiasis, progressive kidney failure, and elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C123262 Familial Hypocalciuric Hypercalcemia Familial Hypocalciuric Hypercalcemia Familial Benign Hypercalcemia A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and hypocalciuria. Familial hypocalciuric hypercalcemia types 1,2, and 3 are a group of autosomal dominant conditions due to loss of function mutation(s) of the CASR, GNA11, and AP2S1 genes, respectively. These genes encode the extracellular calcium-sensing receptor, the guanine nucleotide-binding protein subunit alpha-11, and the AP-2 complex subunit sigma. The condition is characterized by inappropriately low urinary calcium excretion and parathyroid hormone concentration in the presence of mild hypercalcemia. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C123725 X-Linked Adrenal Hypoplasia Congenita X-Linked Adrenal Hypoplasia Congenita A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. An X-linked condition present at birth characterized by underdevelopment of the adrenal gland and adrenal insufficiency. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C123726 SERKAL Syndrome SERKAL Syndrome 46,XX Sex Reversal with Dysgenesis of Kidneys Adrenals and Lungs An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dysgenesis, due to mutation(s) in the WNT4 gene. An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dysgenesis due to mutation(s) in the WNT4 gene. C28193 Syndrome C118467 Pediatric Endocrine Terminology C123727 Familial Glucocorticoid Deficiency Type 1 Familial Glucocorticoid Deficiency Type 1 ACTH Receptor Defect|GCCD1 Familial glucocorticoid deficiency caused by mutation(s) in the MC2R gene encoding the adrenocorticotropin (ACTH) receptor, also known as the melanocortin-2 receptor. A subtype of familial glucocorticoid deficiency caused by mutation(s) in the MC2R gene encoding the adrenocorticotropin (ACTH) receptor, also known as the melanocortin-2 receptor. C120446 Isolated Glucocorticoid Deficiency C118467 Pediatric Endocrine Terminology C123728 Familial Glucocorticoid Deficiency Type 2 Familial Glucocorticoid Deficiency Type 2 GCCD2|Melanocortin-2 Receptor Accessory Protein Defect Familial glucocorticoid deficiency caused by mutation(s) in the MRAP gene encoding the melanocortin-2 receptor accessory protein. A subtype of familial glucocorticoid deficiency caused by mutation(s) in the MRAP gene encoding the melanocortin-2 receptor accessory protein. C120446 Isolated Glucocorticoid Deficiency C118467 Pediatric Endocrine Terminology C123729 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect Mini-chromosome Maintenance 4 A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the MCM4 gene. An autosomal recessive condition characterized by intrauterine and extrauterine growth restriction, decreased numbers of natural killer cells, glucocorticoid deficiency, and increased chromosome breakage; it is associated with mutation(s) in the MCM4 gene. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C124837 Kabuki Syndrome Kabuki Syndrome Kabuki Make-up Syndrome A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability. A syndrome caused in the majority of cases by heterozygous mutation(s) in the KMT2D gene, encoding lysine-specific methyltransferase 2D, an enzyme involved in chromatin regulation; a minority of cases result from mutation(s) in the X-linked KDM6A gene, encoding lysine-specific demethylase 6A, an enzyme involved in regulation of histone methylation. The condition is characterized by distinctive facial features, including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose and large protruding earlobes, dermatoglyphic anomalies, hypotonia, short stature, developmental delay, and intellectual impairment. Some patients also manifest congenital hyperinsulinism, the molecular mechanism of which is unknown. C28193 Syndrome C118467 Pediatric Endocrine Terminology C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome Mayer-Rokitansky-Kuster-Hauser Syndrome MRKH Syndrome|Mullerian Aplasia/Dysgenesis A rare syndrome of unknown cause that occurs in females. It is characterized by underdeveloped or absent vagina and uterus in an otherwise phenotypically normal female with a normal 46,XX karyotype. Other abnormalities include unilateral renal agenesis, skeletal abnormalities, hearing loss, and heart defects. A condition characterized by failure of Müllerian duct development, typically resulting in uterine aplasia and absence or underdevelopment of the vagina, in an otherwise phenotypically normal female individual with a 46,XX karyotype and normal ovarian function. Other organ systems, including the urological, skeletal, cardiac, and otologic may be affected. C28193 Syndrome C118467 Pediatric Endocrine Terminology C125599 Weaver Syndrome Weaver Syndrome Weaver-Smith Syndrome A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability. An overgrowth syndrome caused by a heterozygous mutation(s) in the EZH2 gene, encoding histone-lysine N-methyltransferase EZH2. This condition is characterized by rapid prenatal and early childhood growth, advanced bone maturation and carpal bone development, craniofacial and skeletal abnormalities, and developmental delay. The distinctive physical and craniofacial characteristics may include macrocephaly, flattened occiput, long philtrum, strabismus, hypertelorism, epicanthal folds, and camptodactyly. C28193 Syndrome C118467 Pediatric Endocrine Terminology C126560 Leri-Weill Dyschondrosteosis Leri-Weill Syndrome Dyschondrosteosis|Leri-Weill Dyschondrosteosis A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement. SHOX deficiency caused by heterozygous mutation(s) in the SHOX gene. This condition is characterized by short stature, mesomelia (shortening of radius/ulna and tibia/fibula), and Madelung (dinner fork) deformity of the distal forearm and wrist. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C126598 Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features Follicular Thyroid Tumor A non-invasive neoplasm of thyroid follicular cells with a follicular growth pattern and nuclear features of papillary thyroid carcinoma that has an extremely low malignant potential. These tumors were formerly classified as non-invasive encapsulated follicular variant of papillary thyroid carcinoma or well-differentiated tumor of uncertain malignant potential. (WHO 2017) A benign or malignant thyroid tumor arising from follicular cells. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C126809 Glucocorticoid Resistance Glucocorticoid Resistance Chrousos Syndrome|Generalized Glucocorticoid Resistance An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare. An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis, resulting in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C126810 Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect PHA1AD|Pseudohypoaldosteronism Type I Autosomal Dominant An autosomal dominant condition presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone, associated with loss-of-function mutation(s) in the NR3C2 gene, encoding the mineralocorticoid receptor. An autosomal dominant condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the NR3C2 gene encoding the mineralocorticoid receptor. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C126811 Hyponatremic Mineralocorticoid Resistance due to Urinary Tract Infection Hyponatremic Mineralocorticoid Resistance due to Urinary Tract Infection Mineralocorticoid Resistance due to UTI|Secondary PHA due to UTI A transient condition associated with urinary tract infections in infants presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone. A transient condition associated with urinary tract infections in infants presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C126812 Hyperkalemic Mineralocorticoid Resistance Hyperkalemic Mineralocorticoid Resistance Chloride Shunt Syndrome|Familial Hyperkalemic Hypertension|Gordon Hyperkalemia|Mineralocorticoid Resistant Hyperkalemia|PHA Type 2|Pseudohypoaldosteronism, Type II|Spitzer-Weinstein Syndrome A genetically heterogynous condition characterized by hyperkalemia, hyperchloremic acidosis, low or suppressed renin activity, and normal to high concentrations of aldosterone. Mutations in genes (for example WNK1 or WNK4), regulating Na-Cl cotransporters (NCC), Na-K-Cl cotransporters (NKCC2), or the renal outer medullary potassium (ROMK) channel have been identified as causative in this condition. The primary abnormality is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid. A genetically heterogenous condition characterized by hyperkalemia, hyperchloremic acidosis, low or suppressed renin activity, and normal to high concentrations of aldosterone. Mutations in genes (for example WNK1 or WNK4) regulating Na-Cl cotransporters (NCC), Na-K-Cl cotransporters (NKCC2), or the renal outer medullary potassium (ROMK) channel have been identified as causative in this condition. The primary abnormality is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid(s). C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C126813 Aldosterone Synthase Deficiency Aldosterone Synthase Deficiency Corticosterone Methyl Oxidase Deficiency An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting. An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C126814 Aldosterone Synthase Deficiency Type 1 Aldosterone Synthase Deficiency Type 1 CMO Type 1|Corticosterone Methyl Oxidase Deficiency Type 1 Aldosterone synthase deficiency characterized by decreased conversion of corticosterone to 18-hydroxycorticosterone. Aldosterone synthase deficiency characterized by decreased conversion of corticosterone to 18-hydroxycorticosterone. C126813 Aldosterone Synthase Deficiency C118467 Pediatric Endocrine Terminology C126815 Aldosterone Synthase Deficiency Type 2 Aldosterone Synthase Deficiency Type 2 CMO Type 2|Corticosterone Methyl Oxidase Deficiency Type 2 Aldosterone synthase deficiency characterized by decreased conversion of 18-hydroxycorticosterone to aldosterone. Aldosterone synthase deficiency characterized by decreased conversion of 18-hydroxycorticosterone to aldosterone. C126813 Aldosterone Synthase Deficiency C118467 Pediatric Endocrine Terminology C126816 Hyporeninenmic Hypoaldosteronism Hyporeninemic Hypoaldosteronism Hypoaldosteronism characterized by hyperkalemia and inappropriately low renin activity. This condition may be caused by a primary renal disorder, drugs or autoimmune processes. Hypoaldosteronism characterized by hyperkalemia and inappropriately low renin activity. This condition may be caused by a primary renal disorder, drugs, or autoimmune processes. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C126817 Hyperreninemic Hypoaldosteronism Hyperreninemic Hypoaldosteronism Hypoaldosteronism characterized by impaired secretion of aldosterone, despite increased renin activity. This condition may be caused by chronic or critical illness, aldosterone synthase deficiency or other genetic conditions. Hypoaldosteronism characterized by impaired secretion of aldosterone, despite increased renin activity. This condition may be caused by chronic or critical illness, aldosterone synthase deficiency, or other genetic conditions. C113206 Aldosterone Deficiency C118467 Pediatric Endocrine Terminology C126876 Langer Mesomelic Dysplasia Langer Type Mesomelic Dysplasia Langer Syndrome An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs. SHOX deficiency due to homozygous mutation(s) in the SHOX gene. This condition is characterized by severe hypoplasia of the radius/ulna and tibia/fibula resulting in extreme short stature. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C127157 Corticotropin-Releasing Hormone Deficiency Corticotropin-Releasing Hormone Deficiency CRH Deficiency Diminished production of adrenocortical hormones due to presumed insufficient secretion of corticotropin-releasing hormone from the hypothalamus. Diminished production of adrenocortical hormones due to presumed insufficient secretion of corticotropin-releasing hormone from the hypothalamus. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology Tertiary Adrenal Insufficiency C127158 Primary Adrenal Glucocorticoid Excess Primary Adrenal Glucocorticoid Excess Supranormal glucocorticoid concentrations resulting from a condition originating within the adrenal gland. Supranormal glucocorticoid concentrations resulting from a condition originating within the adrenal gland. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C127159 Iatrogenic Cushing Syndrome Iatrogenic Cushing Syndrome Cushing syndrome as a result of increased glucocorticoids due to medical therapy. Cushing syndrome as a result of increased glucocorticoids due to medical therapy. C28193 Syndrome C118467 Pediatric Endocrine Terminology C127160 Familial Hyperaldosteronism Familial Hyperaldosteronism A heritable form of hyperaldosteronism. A heritable form of hyperaldosteronism. C113213 Hyperaldosteronism C118467 Pediatric Endocrine Terminology C127161 Familial Hyperaldosteronism Type 1 Familial Hyperaldosteronism Type 1 CYP11B1/CYP11B2 Chimerism|Glucocorticoid Remediable Aldosteronism|Glucocorticoid Suppressible Hypertension Familial hyperaldosteronism caused by a chimeric gene containing regions of CYP11B1 and CYP11B2. This condition is responsive to exogenous glucocorticoids. Familial hyperaldosteronism caused by a chimeric gene containing regions of CYP11B1 and CYP11B2. This condition is responsive to exogenous glucocorticoids. C127160 Familial Hyperaldosteronism C118467 Pediatric Endocrine Terminology C127162 Familial Hyperaldosteronism Type 2 Familial Hyperaldosteronism Type 2 Familial hyperaldosteronism unresponsive to glucocorticoid therapy. The molecular basis for this condition has not been fully elucidated. Familial hyperaldosteronism unresponsive to glucocorticoid therapy. The molecular basis for this condition has not been fully elucidated. C127160 Familial Hyperaldosteronism C118467 Pediatric Endocrine Terminology C127163 Familial Hyperaldosteronism Type 3 Familial Hyperaldosteronism Type 3 Familial hyperaldosteronism caused by a mutation in the KCNJ5 gene, which encodes the inwardly rectifying potassium channel. This condition, characterized by hypokalemia and severe hypertension, presents during early childhood, and is unresponsive to glucocorticoid therapy. Familial hyperaldosteronism caused by a mutation in the KCNJ5 gene, which encodes the inwardly rectifying potassium channel. This condition, characterized by hypokalemia and severe hypertension, presents during early childhood, and is unresponsive to glucocorticoid therapy. C127160 Familial Hyperaldosteronism C118467 Pediatric Endocrine Terminology C127164 Multinodular Adrenal Hyperplasia Multinodular Adrenal Hyperplasia A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules. A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules. C34360 Congenital Adrenal Hyperplasia C118467 Pediatric Endocrine Terminology C127165 Micronodular Adrenal Hyperplasia Micronodular Adrenal Hyperplasia Micronodular Adrenal Disease Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually less than one centimeter in diameter. Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually less than one centimeter in diameter. C34360 Congenital Adrenal Hyperplasia C118467 Pediatric Endocrine Terminology C127166 Macronodular Adrenal Hyperplasia Macronodular Adrenal Hyperplasia Macronodular Adrenal Disease Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter. Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter. C34360 Congenital Adrenal Hyperplasia C118467 Pediatric Endocrine Terminology C127167 Ovotesticular Differences of Sex Development Ovotesticular Differences of Sex Development Ovotesticular DSD|Ovotesticular Disorders of Sex Development Difference of sex development characterized by the presence of ovarian and testicular tissue in the same individual. The clinical manifestations of the condition, which can be associated with 46,XX, 46,XY or 46,XX/46,XY mosaic karyotype, are variable. Difference of sex development characterized by the presence of ovarian and testicular tissue in the same individual. The clinical manifestations of the condition, which can be associated with 46,XX, 46,XY or 46,XX/46,XY mosaic karyotype, are variable. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology True Hermaphroditism C127168 Sex Chromosome Differences of Sex Development Sex Chromosome Differences of Sex Development A condition affecting gonadal and/or internal and/or external reproductive/genital development in which there is an atypical number of sex chromosomes (i.e. fewer or greater than the typical 2 X chromosomes or 1 X and 1 Y chromosome). Differences of sex development in which there is an atypical number of sex chromosomes. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C127169 46,XX Differences of Sex Development 46,XX Differences of Sex Development 46,XX DSD|46,XX Disorders of Sex Development Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C127170 46,XX Testicular Differences of Sex Development 46,XX Testicular Differences of Sex Development 46,XX Testicular DSD|46,XX Testicular Disorders of Sex Development Presence of testes in an individual with a 46,XX karyotype, typically associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein, from the paternal Y chromosome to the paternal X chromosome during gametogenesis (SRY-positive). Approximately 15-20% of individuals with 46,XX testicular DSD are SRY-negative. These individuals may have other genetic variations affecting testis determination, such as duplication of the SOX9 gene, which encodes the transcription factor SOX-9. Presence of testes in an individual with a 46,XX karyotype, typically associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein, from the paternal Y chromosome to the paternal X chromosome during gametogenesis (SRY-positive). Approximately 15-20% of individuals with 46,XX testicular DSD are SRY-negative. These individuals may have other genetic variations affecting testis determination, such as duplication of the SOX9 gene, which encodes the transcription factor SOX-9. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C127171 46,XY Differences of Sex Development 46,XY Differences of Sex Development 46,XY DSD|46,XY Disorders of Sex Development Differences of sex development in individuals with 46,XY karyotype. Differences of sex development in individuals with 46,XY karyotype. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C127172 46,XX Ovotesticular Difference of Sex Development 46,XX Ovotesticular Difference of Sex Development The presence of ovarian and testicular tissue in the an individual with 46,XX karyotype. The anatomical expression of this condition is variable. Ovotesticular differences of sex development in individuals with 46,XX karyotype. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology 46,XX True Hermaphroditism C127173 46,XY Ovotesticular Differences of Sex Development 46,XY Ovotesticular Differences of Sex Development The presence of ovarian and testicular tissue in the an individual with 46,XY karyotype. The anatomical expression of this condition is variable. Ovotesticular differences of sex development in individuals with 46,XY karyotype. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology 46,XY True Hermaphroditism C127174 46,XX/46,XY Ovotesticular Differences of Sex Development 46,XX/46,XY Ovotesticular Differences of Sex Development 46,XX/46,XY Disorders of Sex Development Ovotesticular differences of sex development in individuals with 46,XY/46,XX mosaic karyotype. Ovotesticular differences of sex development in individuals with 46,XY/46,XX mosaic karyotype. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C127194 Somatotroph/Lactotroph Adenoma Growth Hormone and Prolactin-Producing Adenoma A pituitary gland adenoma composed of acidophilic cells that produce both growth hormone and prolactin. It is characterized by the detection of growth hormone and prolactin within the same acidophilic cell, or an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. A non-malignant pituitary tumor that produces growth hormone and prolactin. C3329 Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C129635 Acquired Hyperthyroidism Acquired Hyperthyroidism Hyperthyroidism, the cause of which is not present from birth. Hyperthyroidism, the cause of which is not present from birth. C3123 Hyperthyroidism C118467 Pediatric Endocrine Terminology C129636 Acquired Hypoparathyroidism Acquired Hypoparathyroidism Hypoparathyroidism, the cause of which is not present at birth. Hypoparathyroidism, the cause of which is not present at birth. C78350 Hypoparathyroidism C118467 Pediatric Endocrine Terminology C129637 Adipsic Diabetes Insipidus Adipsic Diabetes Insipidus Diabetes insipidus complicated by a deficient or absent thirst response to hyperosmolality, usually as a result of hypothalamic damage or dysfunction. Diabetes insipidus complicated by a deficient or absent thirst response to hyperosmolality, usually as a result of hypothalamic damage or dysfunction. C43263 Diabetes Insipidus C118467 Pediatric Endocrine Terminology C129644 Acquired Hypothyroidism Acquired Hypothyroidism Hypothyroidism, the cause of which is not present at birth. Hypothyroidism, the cause of which is not present at birth. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C129718 47,XXX Syndrome 47,XXX Syndrome 47,XXX|Triple X Syndrome|Trisomy X A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. C28193 Syndrome C118467 Pediatric Endocrine Terminology C129720 Aarskog Syndrome Aarskog Syndrome Aarskog-Scott Syndrome|FGD|Faciogenital Dysplasia An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay. An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay. C28193 Syndrome C118467 Pediatric Endocrine Terminology C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance PHP1a|Pseudohypoparathyroidism Type 1a Parathyroid hormone (PTH) resistance caused by heterozygous inactivating mutation(s) of the maternal allele of the GNAS gene encoding Gs-alpha, resulting in expression of PTH from only the paternal allele. Clinical manifestations include Albright hereditary osteodystrophy, early-onset obesity, and, in some cases, resistance to thyroid-stimulating hormone, gonadotropins, and growth hormone-releasing hormone, reflecting additional manifestations of Gs-alpha deficiency. Parathyroid hormone (PTH) resistance caused by heterozygous inactivating mutation(s) of the maternal allele of the GNAS gene encoding Gs-alpha, resulting in expression of PTH from only the paternal allele. Clinical manifestations include Albright hereditary osteodystrophy, early-onset obesity, and, in some cases, resistance to thyroid-stimulating hormone, gonadotropins, and growth hormone-releasing hormone, reflecting additional manifestations of Gs-alpha deficiency. C118434 Albright Hereditary Osteodystrophy C118467 Pediatric Endocrine Terminology C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance Albright Hereditary Osteodystrophy without Multiple Hormone Resistance PPHP|Pseudopseudohypoparathyroidism A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance. A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance. C118434 Albright Hereditary Osteodystrophy C118467 Pediatric Endocrine Terminology C129723 Acquired Partial Lipodystrophy Acquired Partial Lipodystrophy Partial lipodystrophy, the cause of which is not present at birth. Examples include lipodystrophy associated with human immunodeficiency virus (HIV) therapy, and Barraquer-Simons syndrome, associated with C3 nephritic factor. Partial lipodystrophy, the cause of which is not present at birth. Examples include lipodystrophy associated with human immunodeficiency virus (HIV) therapy, and Barraquer-Simons syndrome, associated with C3 nephritic factor. C97093 Lipodystrophy C118467 Pediatric Endocrine Terminology C129724 Acute Suppurative Thyroiditis Acute Suppurative Thyroiditis Thyroiditis due to a bacterial infection. Thyroiditis due to a bacterial infection. C26894 Thyroiditis C118467 Pediatric Endocrine Terminology C129725 Anovulatory Cycle Anovulatory Cycle Anovulation A menstrual cycle in which no ovulation occurs. A menstrual cycle in which no ovulation occurs. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C129726 Autoimmune Polyglandular Syndrome Autoimmune Polyglandular Syndrome(s) Autoimmune Polyendocrine Syndrome; Polyglandular Autoimmune Syndrome A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. C28193 Syndrome C118467 Pediatric Endocrine Terminology C129727 Autoimmune Polyglandular Syndrome Type 1 Autoimmune Polyglandular Syndrome Type 1 APECED Syndrome|APS1|Autoimmune Polyendocrine Syndrome Type 1|Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome|Polyglandular Autoimmune Syndrome Type 1 Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum. Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum. C28193 Syndrome C118467 Pediatric Endocrine Terminology C129728 Autoimmune Polyglandular Syndrome Type 2 Autoimmune Polyglandular Syndrome Type 2 APS2|Schmidt Syndrome Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. C28193 Syndrome C118467 Pediatric Endocrine Terminology C129729 Autonomous Ovarian Follicular Cyst Autonomous Ovarian Follicular Cyst A cyst arising from an ovarian follicle that produces hormones independent of gonadotropin stimulation. A cyst arising from an ovarian follicle that produces hormones independent of gonadotropin stimulation. C26841 Ovarian Disorder C118467 Pediatric Endocrine Terminology C129730 Autosomal Dominant Hypoparathyroidism Autosomal Dominant Hypoparathyroidism Hypoparathyroidism associated with heterozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. Hypoparathyroidism associated with heterozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. C78350 Hypoparathyroidism C118467 Pediatric Endocrine Terminology C129731 Autosomal Recessive Hypoparathyroidism Autosomal Recessive Hypoparathyroidism Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. C78350 Hypoparathyroidism C118467 Pediatric Endocrine Terminology C129732 Autosomal Dominant Osteopetrosis Autosomal Dominant Osteopetrosis Albers-Schonberg Disease|Marble Bone Disease An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype. An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype. C26840 Osteopetrosis C118467 Pediatric Endocrine Terminology Autosomal Dominant Osteopetrosis Type 2|Benign Osteopetrosis C129733 Autosomal Recessive Osteopetrosis Autosomal Recessive Osteopetrosis Malignant Osteopetrosis An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. C26840 Osteopetrosis C118467 Pediatric Endocrine Terminology C129734 Autosomal Recessive Infantile Hypercalcemia Autosomal Recessive Infantile Hypercalcemia A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology Idiopathic Infantile Hypercalcemia C129735 Dipsogenic Diabetes Insipidus Dipsogenic Diabetes Insipidus Primary Polydipsia Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. C43263 Diabetes Insipidus C118467 Pediatric Endocrine Terminology C129736 Autosomal Dominant Neurohypophyseal Diabetes Insipidus Autosomal Dominant Neurohypophyseal Diabetes Insipidus ADNDI An autosomal dominant form of diabetes insipidus caused by mutation(s) in the AVP gene encoding arginine vasopressin. An autosomal dominant form of diabetes insipidus caused by mutation(s) in the AVP gene encoding arginine vasopressin. C43263 Diabetes Insipidus C118467 Pediatric Endocrine Terminology C129739 Monogenic Diabetes Monogenic Diabetes Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood. Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood. C2985 Diabetes Mellitus C118467 Pediatric Endocrine Terminology MODY|Maturity Onset Diabetes of the Young C129741 Glucokinase-Associated Diabetes Mellitus Glucokinase-Associated Diabetes Mellitus GCK-Associated Diabetes Mellitus Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology MODY2|Maturity-Onset Diabetes of the Young, Type 2 C129742 Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes HNF1A-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology Maturity-Onset Diabetes of the Young, Type 3 C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes HNF4a-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology Maturity-Onset Diabetes of the Young, Type 1 C129745 Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes NEUROD1-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology Maturity Onset Diabetes of the Young, Type 6 C129746 PDX1-Associated Monogenic Diabetes PDX1-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology Maturity Onset Diabetes of the Young, Type 4 C129747 SUR1-Associated Diabetes Mellitus SUR1-Associated Diabetes Mellitus Diabetes mellitus caused by activating mutation(s) in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the ABCC8 gene result in hyperinsulinism. Diabetes mellitus caused by activating mutation(s) in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the ABCC8 gene result in hyperinsulinism. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology C129748 Transcription Factor-Associated Monogenic Diabetes Transcription Factor-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in transcription factors regulating expression of pancreatic beta cell genes. Monogenic diabetes caused by inactivating mutation(s) in transcription factors regulating expression of pancreatic beta cell genes. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology C129760 Kir6.2-Associated Diabetes Mellitus Kir6.2-Associated Diabetes Mellitus Diabetes mellitus caused by activating mutation(s) in the KCNJ11 gene, encoding the inwardly rectifying Kir6.2 subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the KCNJ11 gene result in hyperinsulinism. Diabetes mellitus caused by activating mutation(s) in the KCNJ11 gene, encoding the inwardly rectifying Kir6.2 subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the KCNJ11 gene result in hyperinsulinism. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology C129867 Growth Hormone Insensitivity Syndrome Growth Hormone Insensitivity Syndromes A group of inherited syndromes in which there is impaired growth hormone signaling, despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty. A group of inherited syndromes in which there is impaired growth hormone signaling despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130982 10p13-p14 Deletion Syndrome 10p13-p14 Deletion Syndrome DGS2|DiGeorge Syndrome Type 2 A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. The NEBL gene, encoding nebulette, a heart-specific component of the sarcomere, may be responsible for the clinical findings. The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections. A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. The NEBL gene, encoding nebulette, a heart-specific component of the sarcomere, may be responsible for the clinical findings. The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130983 Barakat Syndrome Barakat Syndrome Hypoparathyroidism, Deafness, and Renal Anomalies Syndrome A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys. A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130985 Cole-Carpenter Syndrome Cole-Carpenter Syndrome Bone dysplasia due to autosomal dominant mutation(s) in the P4HB gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the SEC24D gene, encoding SEC24 homolog D, COPII coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia. Bone dysplasia due to autosomal dominant mutation(s) in the P4HB gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the SEC24D gene, encoding SEC24 homolog D, COPII coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130986 Distal 18q Deletion Syndrome Distal 18q Deletion Syndrome A contiguous gene deletion syndrome involving deletion of the distal portion of the long arm of chromosome 18. The clinically heterogenous condition is characterized by some or all of the following: growth hormone deficiency with resulting short stature; hand, foot, skull, facial, and genital anomalies; hypotonia; and developmental delay. A contiguous gene deletion syndrome involving deletion of the distal portion of the long arm of chromosome 18. The clinically heterogenous condition is characterized by some or all of the following: growth hormone deficiency with resulting short stature; hand, foot, skull, facial, and genital anomalies; hypotonia; and developmental delay. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130988 IMAGe Syndrome IMAGe Syndrome A condition caused by heterozygous mutation(s) in the CDKN1C gene, encoding cyclin-dependent kinase inhibitor 1C, and characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. A condition caused by heterozygous mutation(s) in the CDKN1C gene, encoding cyclin-dependent kinase inhibitor 1C, and characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130989 Immunoglobulin Superfamily Member 1 Deficiency Syndrome Immunoglobulin Superfamily Member 1 Deficiency Syndrome Hypothyroidism Central and Testicular Enlargement An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130990 Insulin Receptor Mutation - Associated Insulin Resistance Syndromes Insulin Receptor Mutation - Associated Insulin Resistance Syndromes Insulin resistance caused by inactivating mutation(s) in the INSR gene encoding the insulin receptor. Insulin resistance caused by inactivating mutation(s) in the INSR gene encoding the insulin receptor. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130991 Kenny-Caffey Syndrome Kenny-Caffey Syndrome A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130992 Kenny-Caffey Syndrome Type 1 Kenny-Caffey Syndrome Type 1 An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130993 Kenny-Caffey Syndrome Type 2 Kenny-Caffey Syndrome Type 2 An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130994 Laron Syndrome Laron Syndrome Growth Hormone Receptor Deficiency Growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the GHR gene, encoding the growth hormone receptor. Growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the GHR gene, encoding the growth hormone receptor. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130995 Low T3 Syndrome Low T3 Syndrome Low Triiodothyronine Syndrome Reduced serum concentration of tri-iodothyronine caused by a variety of non-thyroidal conditions in which there is no dysfunction in the thyroid gland or the hypothalamic-pituitary axis. Reduced serum concentration of tri-iodothyronine caused by a variety of non-thyroidal conditions in which there is no dysfunction in the thyroid gland or the hypothalamic-pituitary axis. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130996 Maternal Diabetes and Deafness Syndrome Maternal Diabetes and Deafness Syndrome MIDD Syndrome|Maternally Inherited Diabetes and Deafness|Maternally Transmitted Diabetes with Deafness A maternally inherited condition characterized by diabetes and sensorineural deafness with onset after the age of 20, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms. A maternally inherited condition characterized by diabetes and sensorineural deafness with onset after the age of 20, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130997 Mauriac Syndrome Mauriac Syndrome A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. C28193 Syndrome C118467 Pediatric Endocrine Terminology C130998 Osteoporosis Pseudoglioma Syndrome Osteoporosis Pseudoglioma Syndrome An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma. An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131000 Rabson-Mendenhall Syndrome Rabson-Mendenhall Syndrome An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohoe Syndrome. An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohoe Syndrome. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131001 Rieger Syndrome Rieger Syndrome Axenfeldt-Rieger Syndrome A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius. A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131002 Simpson-Golabi-Behmel Syndrome Simpson-Golabi-Behmel Syndrome Simpson Dysmorphia Syndrome An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities. An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131003 Single Central Incisor Syndrome Single Central Incisor Syndrome Single Central Maxillary Incisor Syndrome|Solitary Central Maxillary Incisor Syndrome An autosomal dominant condition usually caused by mutation(s) in the SHH gene, encoding sonic hedgehog, a secreted protein involved in the organization and morphology of the developing embryo. This condition is characterized by multiple, mainly midline, developmental variations, including the presence of a tooth in the center of the maxillary dental arch in both primary and permanent dentition, and any combination of the following: holoprosencephaly, congenital nasal malformation (choanal atresia, midnasal stenosis, or congenital pyriform aperture stenosis), cleft lip and/or palate, hypopituitarism (including hypothyroidism and hypogonadism, resulting in variations in genital development including small penis or incomplete masculinization in male infants), congenital heart anomalies, and developmental delay. An autosomal dominant condition usually caused by mutation(s) in the SHH gene, encoding sonic hedgehog, a secreted protein involved in the organization and morphology of the developing embryo. This condition is characterized by multiple, mainly midline, developmental variations, including the presence of a tooth in the center of the maxillary dental arch in both primary and permanent dentition, and any combination of the following: holoprosencephaly, congenital nasal malformation (choanal atresia, midnasal stenosis, or congenital pyriform aperture stenosis), cleft lip and/or palate, hypopituitarism (including hypothyroidism and hypogonadism, resulting in variations in genital development including small penis or incomplete masculinization in male infants), congenital heart anomalies, and developmental delay. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131006 Wilms Tumor 1 Gene Syndromes Wilms Tumor 1 Gene Syndromes WT1 Gene Syndromes A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131007 Wolcott-Rallison Syndrome Wolcott-Rallison Syndrome A rare, autosomal recessive condition caused by mutation(s) in the EIF2AK3 gene, which encodes translation initiation factor 2-alpha kinase-3. The condition is characterized by the following: permanent insulin-dependent diabetes, with onset in the neonatal period or infancy; epiphyseal dysplasia; deficient bone mineralization, diagnosed in the first year or two of life; and liver dysfunction, occurring in early childhood. Other features may include intellectual deficit, hypothyroidism, renal dysfunction, neutropenia, and thyroid dysfunction. The manifestations and clinical course are variable. A rare, autosomal recessive condition caused by mutation(s) in the EIF2AK3 gene, which encodes translation initiation factor 2-alpha kinase-3. The condition is characterized by the following: permanent insulin-dependent diabetes, with onset in the neonatal period or infancy; epiphyseal dysplasia; deficient bone mineralization, diagnosed in the first year or two of life; and liver dysfunction, occurring in early childhood. Other features may include intellectual deficit, hypothyroidism, renal dysfunction, neutropenia, and thyroid dysfunction. The manifestations and clinical course are variable. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131008 Hyperandrogenism, Insulin Resistance, Acanthosis Nigricans Syndrome Hyperandrogenism, Insulin Resistance, Acanthosis Nigricans Syndrome HAIR-AN Syndrome A condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. It is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. Etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor. A condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. It is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. Etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131009 Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome IPEX|Immune Dysfunction and Diarrhea Syndrome|X linked Polyendocrinopathy|XLAAD|XPID An X-linked recessive autoimmune condition caused by mutation(s) in the FOXP3 gene, encoding the forkhead box P3 transcription factor. The condition is characterized by infantile onset of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Associated features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The condition is usually fatal before age 2 years if not treated with bone marrow transplantation. An X-linked recessive autoimmune condition caused by mutation(s) in the FOXP3 gene, encoding the forkhead box P3 transcription factor. The condition is characterized by infantile onset of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Associated features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The condition is usually fatal before age 2 years if not treated with bone marrow transplantation. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131010 Mullerian-Renal-Cervical Spine Syndrome Mullerian-Renal-Cervical Spine Syndrome MRKH Type 2|MURCS Syndrome|Mullerian Duct Aplasia|Unilateral Renal Dysplasia and Cervicothoracic Somite Anomalies A condition characterized by Mullerian duct aplasia, unilateral renal dysplasia, and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities (scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb malformations (brachymesophalangy, ectrodactyly). Heart malformations may include valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy of Fallot. Putative candidate genes such as HNF1B (17q12), LHX1 (17q12), SHOX (Xp22.33 and Yp11.32), TBX6 ( 16p11.2), and ITIH5 (10p14) may be implicated. A condition characterized by Mullerian duct aplasia, unilateral renal dysplasia, and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities (scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb malformations (brachymesophalangy, ectrodactyly). Heart malformations may include valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy of Fallot. Putative candidate genes such as HNF1B (17q12), LHX1 (17q12), SHOX (Xp22.33 and Yp11.32), TBX6 ( 16p11.2), and ITIH5 (10p14) may be implicated. C28193 Syndrome C118467 Pediatric Endocrine Terminology C131021 TSHR Gene Mutation Thyroid Stimulating Hormone Receptor Gene Mutation TSH Receptor Defect|Thyrotropin Receptor Defect A change in the nucleotide sequence of the TSHR gene. Mutation(s) in the TSHR gene, resulting in altered function of the thyroid stimulating hormone receptor. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C131022 Thyroid-Binding Globulin Deficiency Thyroid-Binding Globulin Deficiency TBG Deficiency Subnormal concentration of thyroid-binding globulin. Subnormal concentration of thyroid binding globulin in a euthyroid individual. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131023 Thyroid-Binding Globulin Excess Thyroid-Binding Globulin Excess TBG Excess Supranormal concentration of thyroid-binding globulin. Supranormal concentration of thyroid binding globulin in a euthyroid individual. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131030 Transient Hyperinsulinism Transient Hyperinsulinism Hyperinsulinism that resolves spontaneously. This is the most common cause of neonatal hypoglycemia. Hyperinsulinism that resolves spontaneously. This is the most common cause of neonatal hypoglycemia. C131425 Congenital Hyperinsulinism C118467 Pediatric Endocrine Terminology C131031 Transient Hypothyroxinemia Transient Hypothyroxinemia Reduced concentration of thyroid hormone(s), usually associated with a non-thyroidal illness, that resolves spontaneously. Reduced concentration of thyroid hormone(s), usually associated with a non-thyroidal illness that resolves spontaneously. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C131032 Transient Neonatal Hyperparathyroidism Transient Neonatal Hyperparathyroidism Hyperparathyroidism in an infant less than one month a=of age that resolves spontaneously. Hyperparathyroidism in an infant less than one month of age that resolves spontaneously. C48259 Hyperparathyroidism C118467 Pediatric Endocrine Terminology C131034 Transient Primary Hypothyroidism Transient Primary Hypothyroidism Primary hypothyroidism that resolves spontaneously. Primary hypothyroidism that resolves spontaneously. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C131046 Thyroid Stimulating Hormone Resistance TSH Resistance TSH Unresponsiveness Reduced response to thyroid stimulating hormone resulting in low thyroid hormone production despite elevated thyroid stimulating hormone, associated with mutation(s) in the TSHR gene. Reduced response to thyroid stimulating hormone, resulting in low thyroid hormone production despite elevated thyroid stimulating hormone, which is associated with mutation(s) in the TSHR gene. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131059 TXNRD2-Associated Familial Glucocorticoid Deficiency TXNRD2-Associated FGD Familial glucocorticoid deficiency caused by mutation(s) in the TXNRD2 gene encoding thioredoxin reductase 2. Familial glucocorticoid deficiency caused by mutation(s) in the TXNRD2 gene, encoding thioredoxin reductase 2. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131072 Uninodular Goiter Uninodular Goiter Nodular goiter characterized by one discrete tissue mass. Nodular goiter characterized by one discrete tissue mass. C26785 Goiter C118467 Pediatric Endocrine Terminology C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency Vitamin D 1 Alpha-Hydroxylase Deficiency 1 Alpha-hydroxylase Deficiency|Pseudo Vitamin-D Deficient Rickets|Selective 1-alpha, 25-hydroxyvitamin D3 deficiency|VDDR1|Vitamin D Hydroxylation-deficient Rickets type 1a|Vitamin D-dependent Rickets Type 1 An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP27B1 gene, encoding 25-hydroxyvitamin D-1 alpha hydroxylase, the renal enzyme that converts 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D (calcitriol), the active metabolite of vitamin D (cholecalciferol). The condition is characterized by reduced serum concentrations of 1 alpha,25-hydroxyvitamin D, normal concentrations of 25-hydroxyvitamin D, increased serum alkaline phosphatase, hypocalcemia due to reduced intestinal calcium absorption, hypophosphatemia due to renal phosphate wasting, secondary hyperparathyroidism, rickets, seizures, muscle weakness and failure to thrive. An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP27B1 gene, encoding 25-hydroxyvitamin D-1 alpha hydroxylase, the renal enzyme that converts 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D (calcitriol), the active metabolite of vitamin D (cholecalciferol). The condition is characterized by reduced serum concentrations of 1 alpha,25-hydroxyvitamin D, normal concentrations of 25-hydroxyvitamin D, increased serum alkaline phosphatase, hypocalcemia due to reduced intestinal calcium absorption, hypophosphatemia due to renal phosphate wasting, secondary hyperparathyroidism, rickets, seizures, muscle weakness, and failure to thrive. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131074 Vitamin D 25-Hydroxylase Deficiency Vitamin D 25-Hydroxylase Deficiency Vitamin D Hydroxylation-deficient Rickets Type 1b An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131075 Vitamin D Dependent Rickets 2a Vitamin D Receptor Deficiency Rickets VDDR2a|Vitamin D Dependent Rickets 2a Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations, and may also manifest with alopecia. C26878 Rickets C118467 Pediatric Endocrine Terminology C131076 Vitamin D Dependent Rickets 2b Vitamin D Receptor Signaling Defect Rickets Vitamin D Dependent Rickets 2b|Vitamin D Resistant Rickets Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets, including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. C26878 Rickets C118467 Pediatric Endocrine Terminology C131077 Vitamin D Dependent Rickets 2 Vitamin D Receptor Deficiency Hereditary 1,25 Dihydroxyvitamin D-resistant Rickets with Abnormal Vitamin D Receptor|VDDR2|Vitamin D Dependent Rickets 2 An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets and alopecia. An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets, and alopecia. C26878 Rickets C118467 Pediatric Endocrine Terminology C131078 Wolff-Chaikoff Phenomenon Wolff-Chaikoff Wolff-Chaikoff Syndrome/Phenomenon Hypothyroidism induced by excessive levels of iodine in the blood. Iodine-induced hypothyroidism. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C131079 X-Linked Hypoparathyroidism X-linked Hypoparathyroidism Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). C78350 Hypoparathyroidism C118467 Pediatric Endocrine Terminology C131080 Testicular Failure Testicular Failure The failure of testicular hormone production and spermatogenesis. Failure of testicular hormone production and spermatogenesis. C26890 Testicular Disorder C118467 Pediatric Endocrine Terminology C131081 Steroidogenic Acute Regulatory Protein Deficiency Steroidogenic Acute Regulatory Protein Deficiency StAR Deficiency Congenital lipoid adrenal hyperplasia (CLAH) due to loss-of-function mutations in the STAR gene, resulting in decreased or absent production of steroidogenic acute regulatory protein (StAR), which leads to deficient transport of cholesterol from the outer to the inner mitochondrial membrane. Congenital lipoid adrenal hyperplasia (CLAH) due to loss-of-function mutations in the STAR gene, resulting in decreased or absent production of steroidogenic acute regulatory protein (StAR), which leads to deficient transport of cholesterol from the outer to the inner mitochondrial membrane. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency Apparent Mineralocorticoid Excess Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the HSD11B2 gene. Resultant elevated cortisol concentrations in the kidney activate the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia. Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the HSD11B2 gene. Resultant elevated cortisol concentrations in the kidney activate the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia. C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C131084 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency Cortisone Reductase Deficiency Type 2 Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C131085 11-Beta-Hydroxylase Deficiency 11-Beta-Hydroxylase Deficiency Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension. Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension. C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C131086 17-Alpha-Hydroxylase/17,20 Lyase Deficiency 17-Alpha-Hydroxylase/17,20 Lyase Deficiency Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity. Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity. C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C131087 21-Hydroxylase Deficiency 21-Hydroxylase Deficiency 21-OHD A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants. Congenital adrenal hyperplasia caused by loss-of-function mutations in the CYP21A2 gene associated with decreased or absent activity of the 21-hydroxylase enzyme, resulting in inefficient steroidogenesis of glucocorticoids and mineralocorticoids. The clinical manifestations of the deficiency are dependent on the degree of reduction of enzymatic activity. C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C131088 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 3-beta HSD Deficiency Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization. Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization. C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C131089 Acquired Generalized Lipodystrophy Acquired Generalized Lipodystrophy Generalized lipodystrophy, the cause of which is not present at birth. Generalized lipodystrophy, the cause of which is not present at birth. C97093 Lipodystrophy C118467 Pediatric Endocrine Terminology C131090 Acquired Ovarian Failure Acquired Ovarian Failure Ovarian failure, the cause of which is not present at birth. Ovarian failure, the cause of which is not present at birth. C26841 Ovarian Disorder C118467 Pediatric Endocrine Terminology C131091 Acquired Testicular Failure Acquired Testicular Failure Testicular failure, the cause of which is not present at birth. Testicular failure, the cause of which is not present at birth. C26890 Testicular Disorder C118467 Pediatric Endocrine Terminology C131130 STAT5B Deficiency STAT5B Deficiency Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of transcription 5B, a protein critical for the transcription of growth hormone-dependent genes. Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of transcription 5B, a protein critical for the transcription of growth hormone-dependent genes. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131132 Secondary Parathyroid Hormone Resistance Secondary Parathyroid Hormone Resistance Acquired Parathyroid Hormone Resistance|Pseudohypoparathyroidism, Type 2 Parathyroid hormone (PTH) resistance caused by vitamin D deficiency and characterized by clinically increased PTH concentrations with relative hyperphosphatemia. The diagnosis can be confirmed by finding of a normal cyclic adenosine monophosphate (cAMP) response to PTH infusion, but deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. Parathyroid hormone (PTH) resistance caused by vitamin D deficiency, and characterized by clinically increased PTH concentrations with relative hyperphosphatemia. The diagnosis can be confirmed by a finding of a normal cyclic adenosine monophosphate (cAMP) response to PTH infusion, but deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. C131298 Parathyroid Hormone Resistance C118467 Pediatric Endocrine Terminology C131133 Sclerosteosis Sclerosteosis Cortical Hyperostosis with Syndactyly An autosomal recessive form of craniotubular hyperostosis due to loss-of-function mutation(s) in the SOST gene, encoding sclerostin. Clinical features include tall stature, enlarged jaw and facial bones, and cranial nerve compression leading to hearing loss and facial palsy. About two-thirds of patients have syndactyly and/or nail malformations. Increased intracranial pressure due to the thickened calvaria and skull base can occur. An autosomal recessive form of craniotubular hyperostosis due to loss-of-function mutation(s) in the SOST gene, encoding sclerostin. Clinical features include tall stature, enlarged jaw and facial bones, and cranial nerve compression leading to hearing loss and facial palsy. About two-thirds of patients have syndactyly and/or nail malformations. Increased intracranial pressure due to the thickened calvaria and skull base can occur. C107377 Musculoskeletal System Disorder C118467 Pediatric Endocrine Terminology C131134 Salt-Wasting 21-Hydroxylase Deficiency Salt-Wasting 21-Hydroxylase Deficiency Salt-wasting 21-OHD A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and if untreated, hyponatremia, hyperkalemia, and shock. A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity, resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess, causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and, if untreated, hyponatremia, hyperkalemia, and shock. C131087 21-Hydroxylase Deficiency C118467 Pediatric Endocrine Terminology C131135 Renal Parathyroid Hormone Resistance Renal Parathyroid Hormone Resistance Pseudohypoparathyroidism Type 1b Parathyroid hormone resistance caused by defects in methylation in the GNAS gene that cause loss of expression of Gs-alpha from the maternal allele in renal tissue, resulting in decreased phosphate excretion and increased calcium excretion. Individuals with this condition may also have brachydactyly and partial resistance to thyroid-stimulating hormone. Parathyroid hormone resistance caused by defects in methylation in the GNAS gene that cause loss of expression of Gs-alpha from the maternal allele in renal tissue, resulting in decreased phosphate excretion and increased calcium excretion. Individuals with this condition may also have brachydactyly and partial resistance to thyroid-stimulating hormone. C131298 Parathyroid Hormone Resistance C118467 Pediatric Endocrine Terminology C131187 Pycnodysostosis Pycnodysostosis An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination. An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C131193 Progressive Heterotopic Heteroplasia Progressive Osseous Heteroplasia Loss of function mutation(s) in the paternal allele of the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short resulting in dermal ossification beginning in infancy, followed by increasing and extensive heterotopic bone formation in deep muscle and fascia. A condition caused by loss of function mutation(s) in the paternal allele of the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short. This condition is characterized by dermal ossification beginning in infancy, followed by increasing and extensive heterotopic bone formation in deep muscle and fascia. Other features of Albright hereditary osteodystrophy and hormone resistance are absent. C110937 Musculoskeletal Finding C118467 Pediatric Endocrine Terminology C131195 Primary Testicular Failure Primary Testicular Failure Hypergonadotropic Hypogonadism (Male) Testicular failure due to a condition directly affecting the testes. Testicular failure due to a condition directly affecting the testes. C26890 Testicular Disorder C118467 Pediatric Endocrine Terminology C131196 Primary Pigmented Nodular Adrenal Dysplasia Primary Pigmented Nodular Adrenal Dysplasia PPNAD A subtype of micronodular adrenal hyperplasia, characterized by multiple pigmented nodules, which may occur in isolation or as part of the Carney complex. A subtype of micronodular adrenal hyperplasia, characterized by multiple pigmented nodules, which may occur in isolation or as part of the Carney complex. C127165 Micronodular Adrenal Hyperplasia C118467 Pediatric Endocrine Terminology C131216 Pituitary Resistance to Thyroid Hormone Pituitary Resistance to Thyroid Hormone PitRTH Decreased response to thyroid hormones in the pituitary gland with normal response in peripheral tissues. Decreased response to thyroid hormones in the pituitary gland with normal response in peripheral tissues. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131275 Peripheral Resistance to Thyroid Hormone Peripheral Resistance to Thyroid Hormone PRTH Decreased response to thyroid hormones in peripheral tissues, with normal response in the pituitary gland. Decreased response to thyroid hormones in peripheral tissues, with normal response in the pituitary gland. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131277 Perinatal-Stress Induced Hyperinsulinism Perinatal-Stress Induced Hyperinsulinism Transient hyperinsulinism that occurs in response to neonatal stress resulting in prolonged neonatal hypoglycemia, which is distinct from transitional hypoglycemia of typical infants. Transient hyperinsulinism that occurs in response to neonatal stress, resulting in prolonged neonatal hypoglycemia, which is distinct from transitional hypoglycemia of typical infants. C131425 Congenital Hyperinsulinism C118467 Pediatric Endocrine Terminology C131296 Partial Lipodystrophy Partial Lipodystrophy Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. C97093 Lipodystrophy C118467 Pediatric Endocrine Terminology C131298 Parathyroid Hormone Resistance Parathyroid Hormone Resistance Pseudohypoparathyroidism A finding indicating decreased tissue sensitivity to parathyroid hormone. A set of disorders characterized by resistance to parathyroid hormone signaling, which results in hypocalcemia and hyperphosphatemia despite increased serum parathyroid hormone concentrations. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131302 P450 Oxidoreductase Deficiency P450 Oxidoreductase Deficiency Decreased or absent activity of P450 oxidoreductase due to mutation(s) in the POR gene. Decreased or absent activity of P450 oxidoreductase due to mutation(s) in the POR gene. C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C131308 Osteoclast-Rich Osteopetrosis Osteoclast-Rich Osteopetrosis A form of osteopetrosis in which osteoclasts are abundant but have severely impaired resorptive function. A form of osteopetrosis in which osteoclasts are abundant but have severely impaired resorptive function. C26840 Osteopetrosis C118467 Pediatric Endocrine Terminology C131309 Odontohypophosphatasia Odontohypophosphatasia Hypophosphastasia characterized by the premature loss of deciduous teeth, but without accompanying bony abnormalities. Hypophosphastasia characterized by the premature loss of deciduous teeth, but without accompanying bony abnormalities. C26798 Hypophosphatasia C118467 Pediatric Endocrine Terminology C131420 Blomstrand Type Chondrodysplasia Blomstrand Type Chondrodysplasia An autosomal recessive lethal condition caused by inactivating mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation. An autosomal recessive lethal condition caused by inactivating mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C131421 Calcium Deficiency Rickets Calcium Deficiency Rickets Calciopenic Rickets Rickets due to low calcium concentrations, the cause of which can be nutritional or genetic. Rickets due to low calcium concentrations, the cause of which can be nutritional or genetic. C26878 Rickets C118467 Pediatric Endocrine Terminology C131422 Cholesterol Side-Chain Cleavage Deficiency Cholesterol Side-Chain Cleavage Deficiency P450scc Deficiency CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131423 Classic Congenital Adrenal Hyperplasia Classic Congenital Adrenal Hyperplasia A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. C34360 Congenital Adrenal Hyperplasia C118467 Pediatric Endocrine Terminology C131425 Congenital Hyperinsulinism Congenital Hyperinsulinism HHI|Hyperinsulinemia of Infancy|Hyperinsulinemic Hypoglycemia|Neonatal Hyperinsulinism An etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children. An etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology Nesidioblastosis C131426 Congenital Lipoid Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia CLAH Congenital adrenal hyperplasia resulting from the deposition of lipid in the adrenal glands due to a defect of intracellular cholesterol transport or metabolism. The condition is characterized by deficiencies of glucocorticoids, mineralocorticoids, and sex steroids: 46,XY infants are undervirilized, whereas 46,XX infants have no genital manifestations. Congenital adrenal hyperplasia resulting from the deposition of lipid in the adrenal glands due to a defect of intracellular cholesterol transport or metabolism. The condition is characterized by deficiencies of glucocorticoids, mineralocorticoids, and sex steroids: 46,XY infants are undervirilized, whereas 46,XX infants have no genital manifestations. C34360 Congenital Adrenal Hyperplasia C118467 Pediatric Endocrine Terminology C131427 Congenital Ovarian Failure Congenital Ovarian Failure Ovarian failure, the cause of which is present at birth. Ovarian failure, the cause of which is present at birth. C26841 Ovarian Disorder C118467 Pediatric Endocrine Terminology C131428 Congenital Testicular Failure Congenital Testicular Failure Testicular failure, the cause of which is present at birth. Testicular failure, the cause of which is present at birth. C26890 Testicular Disorder C118467 Pediatric Endocrine Terminology C131429 Craniodiaphyseal Dysplasia Craniodiaphyseal Dysplasia CDD|Lionitis An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood. An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood. C107377 Musculoskeletal System Disorder C118467 Pediatric Endocrine Terminology C131430 Craniotubular Hyperostosis Craniotubular Hyperostosis A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations. A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C131431 Defective Thyroglobulin Synthesis Defective Thyroglobulin Synthesis Impairment in the intracellular synthesis of thyroglobulin. Impairment in the intracellular synthesis of thyroglobulin. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131432 Defective Thyroglobulin Transport Defective Thyroglobulin Transport Impairment in the intracellular transport of thyroglobulin. Impairment in the intracellular transport of thyroglobulin. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131433 Neonatal Graves Disease Neonatal Graves Disease Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody. Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody. C3071 Graves Disease C118467 Pediatric Endocrine Terminology C131435 Deiodinase Deficiency Deiodinase Deficiency Dehalogenase Deficiency Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase. Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131436 Diffuse Goiter Diffuse Goiter Enlargement of the entire thyroid gland without discrete mass(es). Enlargement of the entire thyroid gland without discrete mass(es). C26785 Goiter C118467 Pediatric Endocrine Terminology C131437 Nodular Goiter Nodular Goiter Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. C26785 Goiter C118467 Pediatric Endocrine Terminology C131438 Multinodular Goiter Multinodular Goiter Nodular goiter characterized by more than one discrete tissue mass. Nodular goiter characterized by more than one discrete tissue mass. C26785 Goiter C118467 Pediatric Endocrine Terminology C131440 Hypothyroid Goiter Hypothyroid Goiter Goiter associated with reduced thyroid hormone secretion. Goiter associated with reduced thyroid hormone secretion. C26785 Goiter C118467 Pediatric Endocrine Terminology C131442 Non-Classic Congenital Adrenal Hyperplasia Non-Classic Congenital Adrenal Hyperplasia A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. C34360 Congenital Adrenal Hyperplasia C118467 Pediatric Endocrine Terminology Late-onset Congenital Adrenal Hyperplasia C131445 Nutritional Calcium Deficient Rickets Nutritional Calcium Deficient Rickets Nutritional Calciopenic Rickets Nutritional rickets due to dietary deficiency of calcium. Nutritional rickets due to dietary deficiency of calcium. C26878 Rickets C118467 Pediatric Endocrine Terminology C131446 Nutritional Hypophosphatemic Rickets Nutritional Hypophosphatemic Rickets Hypophosphatemic rickets due to insufficient dietary phosphate intake or absorption. Hypophosphatemic rickets due to insufficient dietary phosphate intake or absorption. C26878 Rickets C118467 Pediatric Endocrine Terminology C131447 Nutritional Rickets Nutritional Rickets Rickets due to dietary deficiency of calcium, phosphate, or vitamin D. Rickets due to dietary deficiency of calcium, phosphate, or vitamin D. C26878 Rickets C118467 Pediatric Endocrine Terminology C131448 Nutritional Vitamin D Deficiency Rickets Nutritional Vitamin D Deficiency Rickets Nutritional rickets due to dietary deficiency of vitamin D. Nutritional rickets due to dietary deficiency of vitamin D. C26878 Rickets C118467 Pediatric Endocrine Terminology C131449 Hypophosphatemic Rickets Hypophosphatemic Rickets Phosphopenic Rickets Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. C26878 Rickets C118467 Pediatric Endocrine Terminology C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria Hereditary Hypophosphatemic Rickets with Hypercalciuria HHRH|Hypercalciuric Hypophosphatemic Rickets|Hypophosphatemic Hypercalciuric Rickets An autosomal recessive form of hypophosphatemic rickets caused by inactivating mutation(s) in the SLC34A3 gene, encoding sodium-dependent phosphate transport protein 2C, a protein involved in maintenance of inorganic phosphate concentration in the kidney. The condition is characterized by elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations, resulting in increased intestinal calcium absorption and hypercalciuria. This form of hypophosphatemic rickets is also distinguished by the lack of elevated fibroblast growth factor 23 (FGF23) concentrations. An autosomal recessive form of hypophosphatemic rickets caused by inactivating mutation(s) in the SLC34A3 gene, encoding sodium-dependent phosphate transport protein 2C, a protein involved in maintenance of inorganic phosphate concentration in the kidney. The condition is characterized by elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations, resulting in increased intestinal calcium absorption and hypercalciuria. This form of hypophosphatemic rickets is also distinguished by the lack of elevated fibroblast growth factor 23 (FGF23) concentrations. C26878 Rickets C118467 Pediatric Endocrine Terminology C131451 Familial Glucocorticoid Deficiency Type 3 Familial Glucocorticoid Deficiency Type 3 GCCD3|Non-classic CLAH (FGD variant) A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia. A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia. C120446 Isolated Glucocorticoid Deficiency C118467 Pediatric Endocrine Terminology C131452 Familial Glucocorticoid Deficiency Type 4 Familial Glucocorticoid Deficiency Type 4 GCCD4 Familial glucocorticoid deficiency caused by mutation(s) in the NNT gene encoding nicotinamide nucleotide transhydrogenase. Familial glucocorticoid deficiency caused by mutation(s) in the NNT gene encoding nicotinamide nucleotide transhydrogenase. C120446 Isolated Glucocorticoid Deficiency C118467 Pediatric Endocrine Terminology C131811 Eiken Type Chondrodysplasia Eiken Type Chondrodysplasia An autosomal recessive skeletal dysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severely delayed skeletal maturation, as well as by abnormal modeling of the bones in the hands and feet, abnormal persistence of cartilage in the pelvis, and mild growth retardation. Calcium and phosphate concentrations are normal. An autosomal recessive skeletal dysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severely delayed skeletal maturation, as well as by abnormal modeling of the bones in the hands and feet, abnormal persistence of cartilage in the pelvis, and mild growth retardation. Calcium and phosphate concentrations are normal. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C131812 Endosteal Hyperostosis Endosteal Hyperostosis van Buchem Disease|van Buchem Disease Type 1 An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis. An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C131813 Familial Dysalbuminemic Hyperthyroidism Familial Dysalbuminemic Hyperthyroxinemia Familial Dysalbuminemic Hyperthyroidism A genetic condition caused by a variant in the ALB gene, associated with increased affinity of albumin for thyroxine. A genetic condition caused by a variant in the ALB gene, associated with increased affinity of albumin for thyroxine. C3123 Hyperthyroidism C118467 Pediatric Endocrine Terminology C131814 Focal Lipodystrophy Focal Lipodystrophy Localized Lipodystrophy Loss of subcutaneous fat confined to small area(s) of the body. Loss of subcutaneous fat confined to small area(s) of the body. C97093 Lipodystrophy C118467 Pediatric Endocrine Terminology C131815 Generalized Lipodystrophy Generalized Lipodystrophy Almost complete absence of subcutaneous and/or visceral adipose tissue. Almost complete absence of subcutaneous and/or visceral adipose tissue. C97093 Lipodystrophy C118467 Pediatric Endocrine Terminology C131816 Generalized Thyroid Hormone Resistance Generalized Thyroid Hormone Resistance GTHR Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland. Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131817 Glucagon Deficiency Glucagon Deficiency Impaired pancreatic secretion of glucagon that results in severely low blood glucose. Impaired pancreatic secretion of glucagon that results in severely low blood glucose. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131818 Iatrogenic Central Hypothyroidism Iatrogenic Central Hypothyroidism Central hypothyroidism due to medical or surgical treatment. Central hypothyroidism due to medical or surgical treatment. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C131819 Iatrogenic Primary Hypothyroidism Iatrogenic Primary Hypothyroidism Primary hypothyroidism due to medical or surgical treatment. Primary hypothyroidism due to medical or surgical treatment. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C131820 Hypothyroxinemia Hypothyroxinemia Decreased concentration of thyroxine. Decreased concentration of thyroxine. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131830 Focal KATP-Associated Hyperinsulinism Focal KATP-Associated Hyperinsulinism KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome. KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131831 Glucokinase-Associated Hyperinsulinism Glucokinase-Associated Hyperinsulinism GCK-Associated Hyperinsulinism Hyperinsulinism due to activating mutation(s) in the gene GCK, encoding glucokinase. Hyperinsulinism due to activating mutation(s) in the gene GCK, encoding glucokinase. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131832 Glutamate Dehydrogenase 1 Hyperinsulinism Glutamate Dehydrogenase 1 Hyperinsulinism GDH Hyperinsulinism|GLUD1 Hyperinsulinism|Hyperinsulinism/Hyperammonemia Syndrome Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney. Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131833 Hepatocyte Nuclear Factor 1-Alpha Hyperinsulinism Hepatocyte Nuclear Factor 1-Alpha Hyperinsulinism HNF1A-Associated Hyperinsulinism Hyperinsulinism due to mutation(s) in the gene HNF1A, encoding the transcription factor hepatocyte nuclear factor 1-alpha. This condition may progress to diabetes later in life. Hyperinsulinism due to mutation(s) in the gene HNF1A, encoding the transcription factor hepatocyte nuclear factor 1-alpha. This condition may progress to diabetes later in life. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131834 Hepatocyte Nuclear Factor 4-Alpha Hyperinsulinism Hepatocyte Nuclear Factor 4-Alpha Hyperinsulinism HNF4A-Associated Hyperinsulinism Hyperinsulinism due to mutation(s) in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4-alpha. This condition may progress to diabetes later in life. Hyperinsulinism due to mutation(s) in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4-alpha. This condition may progress to diabetes later in life. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131835 Hyperinsulinism in the Infant of a Diabetic Mother Hyperinsulinism in the Infant of a Diabetic Mother Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia. Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia. C131425 Congenital Hyperinsulinism C118467 Pediatric Endocrine Terminology C131836 Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism Type A Insulin Resistance Syndrome A syndrome of insulin resistance caused by mutation(s) in the INSR gene, encoding the insulin receptor. This condition is characterized by a clinical triad of hyperinsulinemia, acanthosis nigricans, and hyperandrogenism without lipodystrophy. This is the least severe of a spectrum of disorders; the other two conditions are Rabson-Mendenhall Syndrome and Donohoe Syndrome. A syndrome of insulin resistance caused by mutation(s) in the INSR gene, encoding the insulin receptor. This condition is characterized by a clinical triad of hyperinsulinemia, acanthosis nigricans, and hyperandrogenism without lipodystrophy. This is the least severe of a spectrum of disorders; the other two conditions are Rabson-Mendenhall Syndrome and Donohoe Syndrome. C2985 Diabetes Mellitus C118467 Pediatric Endocrine Terminology C131837 Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism HADH-Associated Hyperinsulinism|SCHAD Hyperinsulinism Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent. Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131838 Mitochondrial Uncoupling Protein 2 Hyperinsulinism Mitochondrial Uncoupling Protein 2 Hyperinsulinism UCP2 Hyperinsulinism Hyperinsulinism due to mutation(s) in the gene UCP2, encoding mitochondrial uncoupling protein 2, which plays a role in attenuating insulin secretion. Hyperinsulinism due to mutation(s) in the gene UCP2, encoding mitochondrial uncoupling protein 2, which plays a role in attenuating insulin secretion. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131839 Monocarboxylate Transporter 1 Hyperinsulinism Monocarboxylate Transporter 1 Hyperinsulinism Exercise-induced Hyperinsulinism|MCT1 Hyperinsulinism Hyperinsulinism due to mutation(s) in the regulatory region of the SLC16A1 gene, encoding monocarboxylate transporter 1 (MCT1). The mutation(s) result in aberrant expression of MCT1 in the beta cell, leading to inappropriate insulin secretion and hypoglycemia triggered by anaerobic exercise. Hyperinsulinism due to mutation(s) in the regulatory region of the SLC16A1 gene, encoding monocarboxylate transporter 1 (MCT1). The mutation(s) result in aberrant expression of MCT1 in the beta cell, leading to inappropriate insulin secretion and hypoglycemia triggered by anaerobic exercise. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131840 Monogenic Hyperinsulinism Monogenic Hyperinsulinism A genetically heterogenous group of hyperinsulinemic conditions caused by mutation(s) in one of the many genes involved in the regulation of insulin secretion. A genetically heterogenous group of hyperinsulinemic conditions caused by mutation(s) in one of the many genes involved in the regulation of insulin secretion. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C131841 Obesity-Associated Insulin Resistance Obesity-Associated Insulin Resistance Insulin resistance associated with obesity, which may be attributed in part to impaired insulin signaling in target tissues, or impaired insulin-stimulated glucose transport due to reduced expression of the glucose transporter protein 4. Insulin resistance associated with obesity, which may be attributed in part to impaired insulin signaling in target tissues, or impaired insulin-stimulated glucose transport due to reduced expression of the glucose transporter protein 4. C131425 Congenital Hyperinsulinism C118467 Pediatric Endocrine Terminology C131842 KATP-Associated Hyperinsulinism KATP-Associated Hyperinsulinism Hyperinsulinism caused by non-functional beta-cell ATP-sensitive potassium channels due to inactivating mutation(s) in either the ABCC8 or KCNJ11 gene. Hyperinsulinism caused by non-functional beta-cell ATP-sensitive potassium channels due to inactivating mutation(s) in either the ABCC8 or KCNJ11 gene. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131843 Diffuse KATP-Associated Hyperinsulinism Diffuse KATP-Associated Hyperinsulinism KATP-associated hyperinsulinism affecting all pancreatic beta cells. KATP-associated hyperinsulinism affecting all pancreatic beta cells. C131840 Monogenic Hyperinsulinism C118467 Pediatric Endocrine Terminology C131845 K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes DEND Syndrome A condition characterized by K ATP channel-associated permanent neonatal diabetes mellitus accompanied by neurological manifestations of developmental delay and epilepsy that may be associated with the severity of the mutation(s). A condition characterized by K ATP channel-associated permanent neonatal diabetes mellitus accompanied by neurological manifestations of developmental delay and epilepsy that may be associated with the severity of the mutation(s). C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology C131846 K ATP Associated Transient Neonatal Diabetes Mellitus K ATP Associated Transient Neonatal Diabetes Mellitus TNDM K ATP channel-associated neonatal diabetes mellitus that resolves spontaneously. K ATP channel-associated neonatal diabetes mellitus that resolves spontaneously. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology C131847 K ATP Channel-Associated Diabetes Mellitus K ATP Channel-Associated Diabetes Mellitus Diabetes mellitus caused by activating mutation(s) in genes (KNCJ11 and/or ABCC8) encoding either of the 2 proteins (Kir6.2 and/or SUR1) that make up the pancreatic beta cell adenosine triphosphate-sensitive potassium channel, which is crucial for the regulation of glucose-induced insulin secretion. Diabetes mellitus caused by activating mutation(s) in genes (KNCJ11 and/or ABCC8) encoding either of the 2 proteins (Kir6.2 and/or SUR1) that make up the pancreatic beta cell adenosine triphosphate-sensitive potassium channel, which is crucial for the regulation of glucose-induced insulin secretion. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology C131848 K ATP Permanent Neonatal Diabetes K ATP Permanent Neonatal Diabetes PNDM K ATP channel-associated neonatal diabetes mellitus that does not resolve spontaneously. K ATP channel-associated neonatal diabetes mellitus that does not resolve spontaneously. C129739 Monogenic Diabetes C118467 Pediatric Endocrine Terminology C131849 Hexose-6-phosphate Dehydrogenase Deficiency Hexose-6-Phosphate Dehydrogenase Deficiency Cortisone Reductase Deficiency Type 1 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131850 Hyperthyroxinemia Hyperthyroxinemia Supranormal concentration of thyroxine in the blood. Supranormal concentration of thyroxine in the blood. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C131851 Hyperphosphatemic Familial Tumoral Calcinosis Hyperphosphatemic Familial Tumoral Calcinosis An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone. An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131852 Congenital Hyperthyroidism Congenital Hyperthyroidism Hyperthyroidism, the cause of which is present at birth. Hyperthyroidism, the cause of which is present at birth. C3123 Hyperthyroidism C118467 Pediatric Endocrine Terminology C131853 Neonatal Severe Primary Hyperparathyroidism Neonatal Severe Primary Hyperparathyroidism An autosomal recessive form of Kenny-Caffey syndrome that is secondary to mutation(s) in the TCBE gene that encodes tubulin-specific chaperone E; it is characterized by the following: hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space, cortical thickening and medullary stenosis of long bones, and small hands and feet. An autosomal recessive form of Kenny-Caffey syndrome that is secondary to mutation(s) in the TCBE gene that encodes tubulin-specific chaperone E; it is characterized by the following: hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space, cortical thickening and medullary stenosis of long bones, and small hands and feet. C48259 Hyperparathyroidism C118467 Pediatric Endocrine Terminology C131854 Ketotic Hypoglycemia Ketotic Hypoglycemia A condition in which hypoglycemia is accompanied by ketosis. This condition may be a manifestation of another condition such as glycogen storage disease, ketone utilization defects, growth hormone deficiency, or cortisol deficiency. A condition in which hypoglycemia is accompanied by ketosis. This condition may be a manifestation of another condition such as glycogen storage disease, ketone utilization defects, growth hormone deficiency, or cortisol deficiency. C3126 Hypoglycemia C118467 Pediatric Endocrine Terminology C131855 Idiopathic Ketotic Hypoglycemia Idiopathic Ketotic Hypoglycemia Accelerated Starvation Ketotic hypoglycemia that usually occurs in young, thin children in association with infection or fasting, and which typically resolves by age 6-8 years. Ketotic hypoglycemia that usually occurs in young, thin children in association with infection or fasting, and which typically resolves by age 6-8 years. C131854 Ketotic Hypoglycemia C118467 Pediatric Endocrine Terminology C131856 Iatrogenic Hypoparathyroidism Iatrogenic Hypoparathyroidism Hypoparathyroidism resulting from medical treatment or intervention. Hypoparathyroidism resulting from medical treatment or intervention. C78350 Hypoparathyroidism C118467 Pediatric Endocrine Terminology C131857 Hypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita Hypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita Hypogonadotropic hypogonadism with congenital adrenal hypoplasia associated with mutation(s) in the NR0B1 gene (on the X chromosome). Hypogonadotropic hypogonadism with congenital adrenal hypoplasia associated with mutation(s) in the NR0B1 gene (on the X chromosome). C9227 Hypogonadism C118467 Pediatric Endocrine Terminology C131859 Mitochondrial Diabetes Mitochondrial Diabetes Diabetes mellitus caused by mutation(s) in mitochondrial DNA . Diabetes mellitus caused by mutation(s) in mitochondrial DNA . C2985 Diabetes Mellitus C118467 Pediatric Endocrine Terminology C131860 Jod-Basedow Jod-Basedow Jod-Basedow Phenomenon Iodine-induced hyperthyroidism. Iodine-induced hyperthyroidism. C3123 Hyperthyroidism C118467 Pediatric Endocrine Terminology C131861 Juvenile Paget Disease Juvenile Paget Disease Familial Hyperphosphatasia A bone disorder caused by autosomal recessive mutation(s) of the gene TNFRSF11B, which encodes tumor necrosis factor receptor superfamily member 11B. This condition is characterized by excessive osteoclastic resorption of bone followed by deposition of weak, disorganized woven bone. Clinical characteristics include short stature, enlarged skull, bony deformities, bone pain, warm skin over the affected bone, joint stiffness, headaches, hearing loss, and elevated serum alkaline phosphatase. A bone disorder caused by autosomal recessive mutation(s) of the gene TNFRSF11B, which encodes tumor necrosis factor receptor superfamily member 11B. This condition is characterized by excessive osteoclastic resorption of bone followed by deposition of weak, disorganized woven bone. Clinical characteristics include short stature, enlarged skull, bony deformities, bone pain, warm skin over the affected bone, joint stiffness, headaches, hearing loss, and elevated serum alkaline phosphatase. C97045 Metabolic Bone Disease C118467 Pediatric Endocrine Terminology C131862 Gonadotropin-Resistant Ovary Syndrome Gonadotropin-Resistant Ovary Syndrome Resistant Ovary Syndrome Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova. Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova. C28193 Syndrome C118467 Pediatric Endocrine Terminology ROS|Savage Syndrome C131863 Iatrogenic Contrasexual Pubertal Development Iatrogenic Contrasexual Pubertal Development Contrasexual pubertal development caused by medical intervention. Contrasexual pubertal development caused by medical intervention. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C131864 Idiopathic 46,XY Differences of Sex Development Idiopathic 46,XY Differences of Sex Development Idiopathic 46,XY Disorder of Sex Development Conditions affecting individuals whose karyotype is 46,XY that is characterized by atypical development of the internal or external sex structures, or the gonads, and in whom no genetic, environmental, or biochemical causation can be established. Conditions affecting individuals whose karyotype is 46,XY that is characterized by atypical development of the internal or external sex structures, or the gonads, and in whom no genetic, environmental, or biochemical causation can be established. C103186 Differences of Sex Development C118467 Pediatric Endocrine Terminology C131865 Luteinizing Hormone Deficiency Luteinizing Hormone Deficiency LH deficiency|Lutropin Deficiency Subnormal concentration of luteinizing hormone. Subnormal concentration of luteinizing hormone. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C131866 Isolated Non-Pigmented Micronodular Adrenal Hyperplasia Isolated Non-Pigmented Micronodular Adrenal Hyperplasia A subtype of micronodular adrenal hyperplasia, characterized by multiple non-pigmented nodules. A subtype of micronodular adrenal hyperplasia, characterized by multiple non-pigmented nodules. C34360 Congenital Adrenal Hyperplasia C118467 Pediatric Endocrine Terminology C131867 Miniature Adult Form of AHC Miniature Adult Form of AHC An autosomal recessive or sporadic form of adrenal hypoplasia congenita frequently associated with central nervous system anomalies including anencephaly and pituitary defects. Histologically the adrenal gland is distinguished by the absence of fetal adrenal cortex and the presence of a small amount of normal, permanent adult adrenal cortex. An autosomal recessive or sporadic form of adrenal hypoplasia congenita frequently associated with central nervous system anomalies including anencephaly and pituitary defects. Histologically the adrenal gland is distinguished by the absence of fetal adrenal cortex and the presence of a small amount of normal, permanent adult adrenal cortex. C35261 Adrenal Hypoplasia Congenita C118467 Pediatric Endocrine Terminology C131868 Metaphyseal Chondrodysplasia, Jansen Type Metaphyseal Chondrodysplasia, Jansen Type A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to PTH resistance can appear later in childhood. A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to PTH resistance can appear later in childhood. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C132051 Ectopic Thyroid Gland Ectopic Thyroid Gland Thyroid Ectopy Location of the thyroid gland somewhere other than at the base of the neck. Location of the thyroid gland somewhere other than at the base of the neck. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C132052 Lingual Thyroid Gland Lingual Thyroid Gland Ectopic thyroid gland located at the base of the tongue. Ectopic thyroid gland located at the base of the tongue. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C132053 Iodine Deficiency Hypothyroidism Iodine Deficiency Hypothyroidism Hypothyroidism due to Iodine Deficiency Hypothyroidism due to insufficient intake of iodine. Hypothyroidism due to insufficient intake of iodine. C26800 Hypothyroidism C118467 Pediatric Endocrine Terminology C132054 Euthyroid Condition Euthyroid Condition Derangement of the thyroid gland or thyroid hormone metabolism that is unaccompanied by signs or symptoms of hypothyroidism or hyperthyroidism. Derangement of the thyroid gland or thyroid hormone metabolism that is unaccompanied by signs or symptoms of hypothyroidism or hyperthyroidism. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C132055 Autoimmune Hypophysitis Autoimmune Hypophysitis Lymphocytic Hypophysitis An autoimmune condition affecting the pituitary gland, characterized by lymphocytic infiltration, commonly presenting with pituitary hormone deficiencies. An autoimmune condition affecting the pituitary gland, characterized by lymphocytic infiltration, commonly presenting with pituitary hormone deficiencies. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C132059 Lack of Adrenarche Lack of Adrenarche Absent or incomplete development of adrenal androgen-mediated secondary sexual characteristics. Absent or incomplete development of adrenal androgen-mediated secondary sexual characteristics. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C132060 Activating TSHR Gene Mutation Activating Thyroid Stimulating Hormone Receptor Gene Mutation Mutation(s) in the TSHR gene resulting in increased function of the thyroid stimulating hormone receptor. Mutation(s) in the TSHR gene resulting in increased function of the thyroid stimulating hormone receptor. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C132061 Inactivating TSHR Gene Mutation Inactivating Thyroid Stimulating Hormone Receptor Gene Mutation Mutation(s) in the TSHR gene, resulting in decreased function of the thyroid stimulating hormone receptor. Mutation(s) in the TSHR gene, resulting in decreased function of the thyroid stimulating hormone receptor. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C132062 Osteoma Cutis Osteoma Cutis Heterotopic ossification of the skin not associated with a preexisting lesion or process, such as inflammation or neoplasia. Heterotopic ossification of the skin not associated with a preexisting lesion or process, such as inflammation or neoplasia. C107377 Musculoskeletal System Disorder C118467 Pediatric Endocrine Terminology C132096 Simple Virilizing 21-Hydroxylase Deficiency Simple Virilizing 21-Hydroxylase Deficiency Simple Virilizing 21-OHD A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, but without clinically significant salt wasting, and with androgen excess, which causes virilization in female infants. A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, but without clinically significant salt wasting, and with androgen excess, which causes virilization in female infants. C131087 21-Hydroxylase Deficiency C118467 Pediatric Endocrine Terminology C26689 Addison's Disease Addison Disease Primary Hypoadrenalism A long-standing and persistent diminished production of adrenocortical hormones due to a disorder originating within the adrenal glands. The diminished production of adrenocortical hormones due to a pathologic process within the adrenal glands. C113172 Primary Adrenal Insufficiency C118467 Pediatric Endocrine Terminology C26691 Adrenocortical Insufficiency Adrenal Insufficiency Adrenal Cortical Hypofunction|Adrenocortical Insufficiency|Hypocortisolemia|Hypocortisolism An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). Subnormal concentration of cortisol, with or without mineralocorticoid insufficiency. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C26734 Congenital Hypothyroidism Congenital Hypothyroidism A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality. Hypothyroidism, the cause of which is present at birth. C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C26747 Type 2 Diabetes Mellitus Type 2 Diabetes Mellitus Adult Onset Diabetes|Noninsulin Dependent Diabetes|Type 2 Diabetes A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. Diabetes mellitus caused by decreased insulin action in target tissues and insufficient production of insulin by pancreatic beta cells. C2985 Diabetes Mellitus C118467 Pediatric Endocrine Terminology Adult Onset Diabetes|Noninsulin Dependent Diabetes|Type II Diabetes C26773 Feminization Feminization in Boys Male Feminization The development of secondary female sex characteristics in males. The development of female secondary sexual characteristics (such as breast enlargement, female body habitus) in boys. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C26785 Goiter Goiter Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. Enlargement of the thyroid gland. C26836 Nutritional Disorder C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C26797 Hyperglycemia Hyperglycemia Elevated Blood Glucose Abnormally high level of glucose in the blood. Plasma glucose concentration above the reference range. C36292 Laboratory Test Result C118467 Pediatric Endocrine Terminology C26798 Hypophosphatasia Hypophosphatasia A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders. An autosomal recessive or dominant disorder caused by mutation(s) in the ALPL gene, encoding the alkaline phosphatase, tissue-nonspecific isozyme. The condition is characterized by absent or diminished alkaline phosphatase activity, resulting in the accumulation of inorganic pyrophosphate, which prevents mineralization of hydroxyapatite. The bone mineralization defects have a broad spectrum of severity: mild forms are characterized only by low serum alkaline phosphatase concentrations and early tooth loss; severe cases may manifest with hypercalcemia, and may result in stillbirth or early death. There are five subtypes identified primarily by the age of onset. C27120 Electrolyte Disorder C118467 Pediatric Endocrine Terminology C26800 Hypothyroidism Hypothyroidism Abnormally low levels of thyroid hormone. Reduced secretion of thyroid hormone(s) by the thyroid gland. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C26838 Osteomalacia Osteomalacia A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003 Decreased mineralization of newly formed osteoid at sites of bone turnover in established bone due to deficiency of calcium, phosphate, or vitamin D. C107377 Musculoskeletal System Disorder C118467 Pediatric Endocrine Terminology C26840 Osteopetrosis Osteopetrosis A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis. A group of bone disorders caused by autosomal dominant or recessive mutation(s) in multiple genes involved in osteoclast function, including TCIRG1, CLCN7, OSTM1, SNX10, and PLEKHM1. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it can also be associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. C107377 Musculoskeletal System Disorder C118467 Pediatric Endocrine Terminology C26862 Stein-Leventhal Syndrome Polycystic Ovary Syndrome PCOS|Stein-Leventhal Syndrome A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. A condition of unknown or heterogenous genetic etiology that is characterized by hyperandrogenism and ovarian dysfunction, though the clinical features of the condition may differ between teenage girls and adult women. For teenage girls, the characteristic features generally manifest as persistent, otherwise unexplained hyperandrogenism and reduced or absent ovulation with associated menstrual irregularity, as determined by age- and pubertal stage-appropriate criteria. Additional clinical manifestations include some or all of the following: obesity, insulin resistance/hyperinsulinemia or frank type 2 diabetes mellitus, acanthosis nigricans, hirsutism, and polycystic ovary on ultrasound. C28193 Syndrome C118467 Pediatric Endocrine Terminology C26878 Rickets Rickets Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. A disorder of defective chondrocyte differentiation and mineralization of the epiphyseal plate due to deficiency of calcium, phosphate, or vitamin D. Rickets can manifest clinically with features such as craniotabes, costrochondral junction enlargement, widening of the wrists and ankles, lower extremity bowing, and failure to thrive. This condition is diagnosed radiographically, and is characterized by growth plate widening as well as metaphyseal cupping and fraying. C26836 Nutritional Disorder C118467 Pediatric Endocrine Terminology C26894 Thyroiditis Thyroiditis Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. Inflammation of the thyroid gland. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C26900 Turner Syndrome Turner Syndrome 45,X Gonadal Dysgenesis|45X Syndrome|Bonnevie-Ullrich Syndrome|Monosomy X|Ullrich-Turner Syndrome A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility. A condition caused by absence of part or all of the second sex chromosome in an individual with female phenotype, resulting in a variable constellation of physical and functional anomalies. Characteristic clinical features may include, but are not limited to, short stature, premature ovarian failure, cardiac anomalies, renal anomalies, skeletal variations, and hearing impairment. C2950 Chromosomal Abnormality C118467 Pediatric Endocrine Terminology 45,X0 Syndrome C27112 Congenital Thyroid Gland Aplasia Thyroid Agenesis Athyreosis Absence of the thyroid gland in a newborn. Absence of the thyroid gland. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C27113 Congenital Thyroid Gland Hypoplasia Thyroid Hypoplasia Incomplete development of the thyroid gland in a newborn. Incomplete development of the thyroid gland. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C27191 Hashimoto Thyroiditis Hashimoto Thyroiditis Chronic Lymphocytic Thyroiditis|Hashimoto Disease|Hashimoto's Disease|Hashimoto's Thyroiditis|Lymphocytic Thyroiditis An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. An autoimmune disorder characterized by inflammation and lymphocytic infiltration of the thyroid gland, sometimes associated with reduced thyroid function. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C27226 Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome Androgen Resistance Syndrome A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics. Partial or complete resistance to androgenic hormones due to one or more mutations in the androgen receptor (AR) gene. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C27228 Gonadal Agenesis Gonadal Agenesis A congenital disorder characterized by the complete absence of gonadal tissue. Congenital complete absence of the gonads. C26786 Gonadal Disorder C118467 Pediatric Endocrine Terminology C27343 Pituitary Gland Hypoplasia Pituitary Hypoplasia Pituitary Gland Hypoplasia Incomplete development of the pituitary gland. Incomplete development of the pituitary gland. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C2964 Craniopharyngioma Craniopharyngioma A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) A histologically benign, but locally destructive, partly cystic, epithelial tumor of the sellar region, derived from Rathke pouch epithelium. C2934 Central Nervous System Disorder C118467 Pediatric Endocrine Terminology C2969 Cushing Syndrome Cushing Syndrome Cortisol Excess|Cushing's Syndrome|Hypercortisolism A syndrome caused by high levels of cortisol in the blood either due to excessive production and secretion of corticosteroids secondary to pituitary or adrenocortical neoplasms, or intake of glucocorticoid drugs. Signs and symptoms include a round face, upper body obesity, fragile and thin skin, purple stretch marks in the skin, fatigue, muscle weakness, hypertension, diabetes mellitus, hypertrichosis and amenorrhea in women, impotence in men, and osteoporosis. A clinical condition characterized by variable degrees of central obesity, rounding of the face ("moon" face), hypertension, striae, and a number of other physical findings, as a result of prolonged exposure to supranormal cortisol concentration of any etiology. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C2985 Diabetes Mellitus Diabetes Mellitus A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. A metabolic condition, characterized by hyperglycemia, caused by insufficient secretion of insulin by the pancreas and/or decreased insulin action in target tissues. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C2986 Type 1 Diabetes Mellitus Type 1 Diabetes Mellitus Immune Mediated Diabetes|Insulin Dependent Diabetes|Juvenile Diabetes|Type 1 Diabetes|Type I Diabetes A chronic condition characterized by minimal or absent production of insulin by the pancreas. Diabetes mellitus caused by cell-mediated autoimmune destruction of pancreatic beta cells. C2985 Diabetes Mellitus C118467 Pediatric Endocrine Terminology Insulin Dependent Diabetes|Type I Diabetes C2989 DiGeorge Syndrome 22q Deletion Syndrome(s) DGS1|DiGeorge Sequence|DiGeorge Syndrome|DiGeorge Syndrome Type 1|Shprintzen Syndrome|Sphrintzen|VCF|Velo-Cardio-Facial Syndrome|Velocardiofacial Syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C2996 Dysgerminoma Dysgerminoma A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage. A seminomatous germ cell tumor originating in the ovary. C3708 Germ Cell Tumor C118467 Pediatric Endocrine Terminology C3016 Eosinophilic Granuloma Unifocal Langerhans Cell Histiocytosis Chronic Unifocal Langerhans Cell Histiocytosis|Eosinophilic Granuloma|Eosinophilic Xanthomatous Granuloma|Monostotic Langerhans Cell Histiocytosis A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. A clinical variant of Langerhans cell histiocytosis that is characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults, often presenting with a lytic bone lesion of an unknown etiology. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu that includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. C123396 Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement C3107 Langerhans Cell Histiocytosis C118467 Pediatric Endocrine Terminology C3040 Fibrodysplasia Ossificans Progressiva Fibrodysplasia Ossificans Progressiva A condition in which there is progressive heterotopic bone formation of the tendons and muscles. An autosomal recessive disorder of connective tissue caused by mutation(s) in the ACVR1 gene, encoding activin receptor type-1. This condition is characterized by congenital malformations of the great toes and progressive ossification of skeletal muscle, fascia, tendons, and ligaments. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C3071 Graves Disease Graves Disease Basedow Disease Hyperthyroidism associated with diffuse hyperplasia of the thyroid gland (goiter), resulting from production of antibodies that are directed against the thyrotropin receptor complex of the follicular epithelial cells. As a result, the thyroid gland enlarges and secrets increased amounts of thyroid hormones. An autoimmune condition characterized by excessive immunoglobulin stimulation of the thyroid gland resulting in hyperthyroidism. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C3073 Gynecomastia Gynecomastia Development of breast tissue in males. Presence of breast tissue in males. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C3105 Von Hippel-Lindau Syndrome Von Hippel-Lindau Syndrome Von Hippel-Lindau Disease An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004 An autosomal dominant multiple neoplasia syndrome caused by germline mutations of the VHL gene, encoding the protein von Hippel-Lindau tumor suppressor (pVHL). The condition is characterized by development of capillary hemangioblastomas of the central nervous system and retina, clear cell renal carcinoma, pheochromocytoma, pancreatic tumors, and inner ear tumors (endolymphatic sac tumors). C84348 Phakomatosis C118467 Pediatric Endocrine Terminology C3107 Langerhans Cell Histiocytosis Langerhans Cell Histiocytosis A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001) Tissue infiltration by Langerhans cells (histiocytes). When infiltration involves the pituitary stalk or gland, presentation includes diabetes insipidus, which is sometimes accompanied by other pituitary dysfunction. C26323 Hematologic Disorder C118467 Pediatric Endocrine Terminology Histiocytosis X C3123 Hyperthyroidism Hyperthyroidism Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. Increased secretion of thyroid hormone(s) by the thyroid gland. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C3160 Letterer-Siwe Disease Multifocal Multisystem Langerhans Cell Histiocytosis Acute Disseminated Langerhans Cell Histiocytosis|Letterer-Siwe Disease A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems that may include the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. C123395 Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement C3107 Langerhans Cell Histiocytosis C118467 Pediatric Endocrine Terminology C3225 Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Adenomatosis Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Multiple endocrine neoplasia caused by inactivating mutation(s) of the tumor suppressor gene MEN1, encoding the menin protein, a component of the histone methyltransferase complex. The condition is characterized by hyperfunctioning adenomas of the parathyroid glands, adrenal glands, pituitary gland, and pancreatic endocrine cells (most commonly gastrinomas and insulinomas); thymic and bronchial carcinoid tumors also may develop. C6432 Multiple Endocrine Neoplasia Syndrome(s) C118467 Pediatric Endocrine Terminology Wermer Syndrome C3226 Multiple Endocrine Neoplasia Type 2A Multiple Endocrine Neoplasia Type 2A Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret. This condition is characterized by medullary thyroid carcinoma, accompanied in some cases by pheochromocytoma and parathyroid gland hyperplasia or adenoma. C6432 Multiple Endocrine Neoplasia Syndrome(s) C118467 Pediatric Endocrine Terminology C3227 Multiple Endocrine Neoplasia Type 2B Multiple Endocrine Neoplasia Type 2B Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas. Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret (most commonly the M918T mutation). This condition is characterized by an aggressive form of medullary thyroid carcinoma, accompanied by pheochromocytoma, mucosal neuromas, thickened corneal nerves, and Marfanoid habitus in most affected individuals. C6432 Multiple Endocrine Neoplasia Syndrome(s) C118467 Pediatric Endocrine Terminology C3273 Neurofibromatosis Type 1 Neurofibromatosis Type 1 NF1|Neurofibromatosis|Neurofibromatosis Type 1 Microdeletion Syndrome|Von Recklinghausen Disease The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17. An autosomal dominant form of neurofibromatosis caused by mutation(s) in the NF1 gene, encoding neurofibromin. The clinical features of this condition may include smooth bordered areas of hyperpigmentation, known as cafe-au-lait spots, axillary freckling, Lisch nodules, short stature, cutaneous and subcutaneous tumors (neurofibromas), optic nerve gliomas, precocious puberty, and growth hormone excess. C6727 Neurofibromatosis C118467 Pediatric Endocrine Terminology C3298 Osteoporosis Osteoporosis A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). Reduced bone mineral density due to decreased number and thickness of bone trabeculae and decreased cortical thickness, associated with increased risk of skeletal fractures. A clinical diagnosis of osteoporosis in childhood requires either a finding of one or more otherwise unexplained vertebral compression fractures, or the presence of bone mineral density Z-score less than or equal to 2.0 accompanied by one or more of the following: 1) at least two long bone fractures by age 10 years; 2) at least three long bone fractures up to age 19 years. C107377 Musculoskeletal System Disorder C118467 Pediatric Endocrine Terminology C3328 Pineal Region Neoplasm Pinealoma Pineal Region Tumor Neoplasms that are located in the pineal gland. These neoplasms arise either from pineal parenchymal cells (pineocytes), as do pineocytomas and the more aggressive pineoblastomas, or from other cell types, as do pineal astrocytic tumors (notably pilocytic astrocytomas) and germ cell tumors. Clinical symptoms include neuro-ophthalmologic dysfunction, changes in mental status, dysfunction of the brain stem, and hypothalamic-based endocrine abnormalities. A tumor arising in the pineal region, the majority of which are malignant germ cell tumors. A minority of pinealomas are benign, and comprise neoplastic cells that resemble normal pineocytes. C2934 Central Nervous System Disorder C118467 Pediatric Endocrine Terminology C3330 Pituitary Gland Neoplasm Pituitary Tumor A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. A neoplasm in the pituitary gland. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C3342 Lactotroph Adenoma Prolactinoma An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances. A non-malignant prolactin-secreting pituitary tumor. C3329 Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C3414 Thyroid Gland Neoplasm Thyroid Tumor A benign or malignant neoplasm affecting the thyroid gland. A neoplasm of the thyroid gland. C3010 Endocrine Neoplasm C118467 Pediatric Endocrine Terminology C3415 Thyroid Gland Nodule Thyroid Nodule A nodular lesion that develops in the thyroid gland. Causes include adenoma, thyroiditis, fluid-filled cyst, multinodular goiter, and carcinoma. A discrete tissue mass in the thyroid gland. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C34345 Achondroplasia Achondroplasia An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia. An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition results in inappropriate cartilage growth plate differentiation and deficient endochondral growth, and manifests clinically with severe rhizomelic short stature. C84978 Osteochondrodysplasia C89330 Developmental Disorder C118467 Pediatric Endocrine Terminology C34360 Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia Adrenogenital Disorder A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. A group of heritable conditions associated with loss-of-function mutations in the genes encoding proteins involved in corticosteroid production, resulting in enlargement of the adrenal gland. C2849 Congenital Malformation C118467 Pediatric Endocrine Terminology C34415 Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas. A complex syndrome resulting from various genetic and epigenetic anomalies of the 11p15.5 chromosomal region, leading to dysregulated expression of imprinted genes. Specific genes involved include CDKN1C, H19, IGF2, and KCNQ1OT1. One of the key genetic anomalies is an imbalance between the paternally expressed IGF2 growth enhancer gene and the maternally expressed H19 growth suppressor gene, leading to fetal and postnatal overgrowth. The condition is typically characterized by macrosomia, macroglossia, umbilical hernia or more severe abdominal wall anomalies such as omphalocele, ear lobe indentations, and hypoglycemia associated with hyperinsulinemia due to pancreatic islet cell hyperplasia. Patients with this syndrome have an increased risk for development of embryonal tumors (particularly Wilms tumor and hepatoblastoma) and adrenal cortex carcinoma. C3101 Genetic Disorder C89330 Developmental Disorder C118467 Pediatric Endocrine Terminology C34510 Conn Syndrome Conn Syndrome An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. Primary hyperaldosteronism caused by an aldosterone-secreting adenoma. C28193 Syndrome C118467 Pediatric Endocrine Terminology C34752 Klinefelter Syndrome Klinefelter Syndrome 47,XXY Syndrome|Klinefelter's Syndrome, XXY A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. A condition caused by the presence of an extra X chromosome resulting in 47,XXY karyotype in an individual with male phenotype. The condition is characterized in childhood by relative tall stature with disproportionately long limbs, and speech/language developmental problems in some patients. Postpubertal findings include small testes, gynecomastia, and infertility. C2950 Chromosomal Abnormality C118467 Pediatric Endocrine Terminology C34807 Marfan Syndrome Marfan Syndrome Marfan's Syndrome A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. An autosomal dominant condition caused by mutation(s) in the FBN1 gene, encoding fibrillin-1. This condition is characterized by tall stature, disproportionately long limbs, arachnodactyly, and hyperextensible joints; additional features may include scoliosis, kyphosis, pectus excavatum/carinatum, mitral valve prolapse, aortic dilatation, aortic dissection, and upward subluxation of one or both ocular lens. C97075 Hereditary Connective Tissue Disorder C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C34854 Noonan Syndrome Noonan Syndrome Noonan's Syndrome A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. A predominantly autosomal dominant condition typically caused by mutation(s) in genes encoding proteins involved in the RAS-MAP kinase pathway, disrupting the regulation of cell growth and division. The condition is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, pectus excavatum/carinatum, right sided cardiac anomalies (pulmonary stenosis, hypertrophic cardiomyopathy), bleeding disorders, and an increased risk of leukemia. Fifty percent of individuals with Noonan syndrome have mutation(s) in the PTPN11 gene, encoding tyrosine-protein phosphatase non-receptor type 11. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C3496 Hypercalcemia of Malignancy Hypercalcemia of Malignancy Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. Hypercalcemia due to a tumor production of parathyroid hormone-related protein or 1,25-dihydroxyvitamin D(3), or due to osteolytic metastases with local release of cytokines. C3112 Hypercalcemia C118467 Pediatric Endocrine Terminology C34983 Reye Syndrome Reye Syndrome An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. An acute and potentially fatal metabolic condition characterized by cerebral edema, fatty liver, and hypoglycemia. It occurs primarily in children, and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. C28193 Syndrome C118467 Pediatric Endocrine Terminology C3502 Thyroid Gland Follicular Adenoma Thyroid Adenoma A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics. A non-malignant neoplasm of the thyroid gland arising from epithelial cells. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C35071 Subacute Thyroiditis Subacute Thyroiditis Self-limited inflammation of the thyroid gland. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. This category includes the subacute lymphocytic thyroiditis and subacute granulomatous thyroiditis. Self-limited thyroiditis presumed to be caused by a viral infection. C26894 Thyroiditis C118467 Pediatric Endocrine Terminology C35133 Wolfram Syndrome Wolfram Syndrome DIDMOAD|Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness Syndrome A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. A neurodegenerative condition due to recessive mutation(s) in the WFS1 gene, encoding the membrane glycoprotein wolframin, and the CISD2 gene, encoding CDGSH iron sulfur domain protein 2 (or endoplasmic reticulum intermembrane small protein). This condition is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Additional clinical features may include renal anomalies, ataxia, intellectual impairment, and psychiatric illnesses. A similar condition may be caused by mutations in mitochondrial DNA. C28193 Syndrome C118467 Pediatric Endocrine Terminology C35171 Toxic Nodular Goiter Toxic Goiter Nodular enlargement of the thyroid gland associated with hyperthyroidism. Goiter associated with excessive thyroid hormone secretion. C26785 Goiter C118467 Pediatric Endocrine Terminology C35261 Congenital Adrenal Gland Hypoplasia Adrenal Hypoplasia Congenita AHC|Congenital Adrenal Hypoplasia A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal. A condition present at birth characterized by underdevelopment of the adrenal gland and adrenal insufficiency. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C35271 Nontoxic Goiter Euthyroid Goiter Non-toxic Goiter Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. Goiter in which the concentrations of thyroid hormones are normal. C26785 Goiter C118467 Pediatric Endocrine Terminology C35710 Triple A Syndrome Triple A Syndrome 3A syndrome|Achalasia-Addisonianism-Alacrima Syndrome|Allgrove Syndrome|Triple-A syndrome An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production. An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production. C28193 Syndrome C118467 Pediatric Endocrine Terminology C35827 Riedel Fibrosing Thyroiditis Riedel Thyroiditis An inflammatory disorder of unknown etiology that affects the thyroid gland. It is characterized by extensive fibrosis of the thyroid parenchyma. The fibrosis extends beyond the thyroid gland capsule to the adjacent structures. Thyroiditis of unknown etiology, characterized by extensive fibrosis of the thyroid parenchyma. The fibrosis extends beyond the thyroid gland capsule to the adjacent structures. C26894 Thyroiditis C118467 Pediatric Endocrine Terminology C35828 Subacute Granulomatous Thyroiditis Subacute Granulomatous Thyroiditis DeQuervain Thyroiditis Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. Subacute thyroiditis characterized clinically by pain and tenderness of the thyroid gland and histologically by multinucleated giant-cell granulomas. C26894 Thyroiditis C118467 Pediatric Endocrine Terminology C3708 Germ Cell Tumor Germ Cell Tumor A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, dysgerminoma, and germinoma. C3262 Neoplasm C118467 Pediatric Endocrine Terminology C3718 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome WAGR Syndrome 11p Partial Monosomy Syndrome|Wilms Tumor, Aniridia, Genitourinary Anomalies and Developmental Delay Syndrome|Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities. A syndrome characterized by a predisposition for Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13 in a region containing the WT1 and PAX6 genes. C2950 Chromosomal Abnormality C118467 Pediatric Endocrine Terminology C3753 Germinoma Germinoma A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes. A germinomatous germ cell tumor arising in the central nervous system; it is histologically identical to the dysgerminoma and seminoma. C3708 Germ Cell Tumor C118467 Pediatric Endocrine Terminology C3878 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma Anaplastic Thyroid Carcinoma Undifferentiated Thyroid Tumor A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. An aggressive carcinoma of the thyroid gland composed of undifferentiated cells. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C3879 Thyroid Gland Medullary Carcinoma Medullary Thyroid Carcinoma C Cell Carcinoma A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. Carcinoma arising from the C-cells of the thyroid gland. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C3988 Syndrome of Inappropriate Antidiuretic Hormone Secretion Syndrome of Inappropriate Antidiuretic Hormone Inappropriate ADH Secretion|Inappropriate Arginine Vasopressin Secretion|SIADH|Syndrome of Inappropriate Antidiuretic Hormone Secretion|Syndrome of Inappropriate Vasopressin Secretion A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. A syndrome characterized by elevated concentrations of antidiuretic hormone (ADH) or ADH-like peptides, in the setting of hyponatremia and hypoosmolality. Causes include surgical damage to the pituitary stalk, drugs that stimulate release of, or mimic ADH, including psychotropic drugs, ectopic production of ADH, and pulmonary disease. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C4035 Thyroid Gland Papillary Carcinoma Papillary Thyroid Carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C41236 Osteosclerosis Osteosclerosis Abnormally high bone density. An increase in bone density. C107377 Musculoskeletal System Disorder C118467 Pediatric Endocrine Terminology C43263 Diabetes Insipidus Diabetes Insipidus A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. A condition characterized by excretion of large amounts of dilute urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C4385 Hypothalamic Hamartoma Hypothalamic Hamartoma A benign, disorganized mass of various mature cells, located heterotopically in the hypothalamus; it is often associated with endocrine and neurological conditions, such as precocious puberty and gelastic seizures. A benign, disorganized mass of various mature cells, located heterotopically in the hypothalamus; it is often associated with endocrine and neurological conditions, such as precocious puberty and gelastic seizures. C96413 Brain Disorder C118467 Pediatric Endocrine Terminology C4387 Ectopic ACTH Secretion Syndrome Ectopic ACTH Syndrome A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) A condition characterized by excess corticosteroid concentration in response to adrenocorticotropic hormone (ACTH) produced outside of the pituitary gland. C28193 Syndrome C118467 Pediatric Endocrine Terminology C45915 Gonadotroph Adenoma Gonadotropin-Producing Adenoma An adenoma of the anterior lobe of the pituitary gland that produces gonadotrophic hormones (FSH and/or LH) or shows evidence towards gonadotroph differentiation. The majority of cases are hormonally non-functional. Clinical manifestations include visual disturbances, hypopituitarism, headache, and acute hemorrhagic necrosis of the pituitary gland. A non-malignant pituitary tumor that produces one or more gonadotropins. C3329 Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C45927 Mixed Somatotroph and Lactotroph Adenoma Mixed Somatolactotrope Adenoma An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry. A non-malignant pituitary tumor composed of both acidophilic and chromophobic cells that produce growth hormone and prolactin, respectively. C127194 Growth Hormone and Prolactin-Producing Adenoma C118467 Pediatric Endocrine Terminology C45928 Mammosomatotroph Adenoma Somatolactotrope Adenoma Mammosomatotrope Adenoma|Somatomammotrope Adenoma A pituitary gland adenoma composed of acidophilic cells that produce both growth hormone and prolactin. Immunohistochemical studies reveal the presence of these two hormones localized in the same cell. A non-malignant pituitary tumor composed of acidophilic cells that produce both growth hormone and prolactin. Immunohistochemical studies reveal the presence of these two hormones localized in the same cell. C127194 Growth Hormone and Prolactin-Producing Adenoma C118467 Pediatric Endocrine Terminology C4705 Carney Complex Carney Complex An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and melanotic schwannomas. An autosomal dominant syndrome most often caused by heterozygous inactivating mutations in a potential tumor suppressor gene, PRKAR1A, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. This condition is characterized by increased risk of myxomas in the heart, psammomatous melanotic schwannomas and letigines, and tumors in many endocrine organs. A distinctive feature of this condition is primary pigmented nodular adrenocortical disease (PPNAD), which results in hyperadrenocortisolism. Pituitary gland involvement includes functional pituitary adenomas that result in excess growth hormone production. C3266 Hereditary Neoplastic Syndrome C118467 Pediatric Endocrine Terminology C4815 Thyroid Gland Carcinoma Thyroid Carcinoma Thyroid Cancer A carcinoma arising from the thyroid gland. It includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and undifferentiated (anaplastic) carcinoma. A malignant tumor arising from the epithelial cells of the thyroid gland. C9305 Cancer C118467 Pediatric Endocrine Terminology C48259 Hyperparathyroidism Hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. Elevated concentration of parathyroid hormone. Causes include conditions originating within the parathyroid glands (primary), in response to hypocalcemia and hyperphosphatemia (secondary), and renal disease (tertiary). Characteristics may include polyuria, polydipsia, constipation, lethargy, cognitive dysfunction, hypercalciuria, nephrolithiasis, and bone demineralization or reduced bone mineral density. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C48280 Primary Hyperparathyroidism Primary Hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Hyperparathyroidism due to a condition originating within the parathyroid glands, resulting in hypercalcemia due to increased release of calcium and phosphate from bone matrix, increased renal calcium reabsorption, and increased renal production of 1,25-dihydroxyvitamin D, which increases intestinal absorption of calcium. Primary hyperparathyroidism is also associated with hypophosphatemia as a result of phosphaturia. Clinical features include weakness, fatigue, nausea, vomiting, constipation, depression, and, if chronic, bone pain, osteoporosis, cystic bone lesions, and kidney stones. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C48287 Hyperparathyroidism-Jaw Tumor Syndrome Hyperparathyroidism-Jaw Tumor Syndrome HPT-JT|Hyperparathyroidism-2 An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. An autosomal dominant condition that may be associated with mutation(s) in the CDC73 gene, encoding cell division cycle protein 73 homolog. The condition is characterized by hyperfunctioning parathyroid adenomas and fibro-osseous tumors of the maxilla and mandible. This condition may also be associated with parathyroid carcinoma, Wilms tumor, and Hurthle cell thyroid adenomas. C28193 Syndrome C118467 Pediatric Endocrine Terminology C48627 McCune-Albright Syndrome McCune Albright Syndrome MAS A syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity. It is caused by mutations within the GNAS genetic locus. A syndrome caused by activating somatic mutation(s) in the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short. This syndrome is characterized most commonly by irregular (coast of Maine) cafe-au-lait skin pigmentation, polyostotic fibrous dysplasia, and gonadotropin-independent precocious puberty due to primary gonadal hyperfunction. Other clinical features may include hyperthyroidism, goiter, thyroid nodules, hyperadrenocorticolism, growth hormone excess, and phosphate wasting. C28193 Syndrome C118467 Pediatric Endocrine Terminology C4977 Rathke Pouch Cyst Rathke Cleft Cyst Rathke's pouch cysts are rarely symptomatic in the first two decades of life though they may produce symptoms in the third and fourth decades of life. When the cysts do present in the first decades of life, the symptoms are generally associated with diabetes insipidus or other conditions related to hypopituitarism. Benign, epithelium-lined intrasellar cyst that originates from remnants of the Rathke pouch. C2978 Cyst C118467 Pediatric Endocrine Terminology C50530 Diabetic Ketoacidosis Diabetic Ketoacidosis DKA The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. A metabolic derangement characterized by ketosis, acidosis, and often hyperglycemia, as a consequence of absolute or relative insulin deficiency. C3235 Metabolic Disease C118467 Pediatric Endocrine Terminology C6041 Thyroid Gland Sarcoma Thyroid Sarcoma A malignant mesenchymal neoplasm primarily involving the thyroid gland. A malignant mesenchymal neoplasm primarily involving the thyroid gland. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C61252 Adrenoleukodystrophy Adrenoleukodystrophy Schilder Disease A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death. An X-linked recessive condition caused by mutation(s) in the ABCD1 gene, resulting in defective peroxisomal fatty acid oxidation and accumulation of saturated very long chain fatty acids in all tissues of the body. Clinical manifestations of the condition vary in severity, and can include progressive loss of adrenal gland function, Leydig cell dysfunction, and neurodegenerative changes. C85239 Zellweger Syndrome C118467 Pediatric Endocrine Terminology C61271 Wolman Disease Lysosomal Acid Lipase Deficiency Wolman Disease|Wolman's Disease A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands. An autosomal recessive condition caused by mutation(s) in the LIPA gene, resulting in lysosomal acid lipase deficiency, which leads to accumulation of cholesterol esters and triglycerides in many organs. C3101 Genetic Disorder C34816 Congenital Metabolic Disorder C118467 Pediatric Endocrine Terminology C61420 Gonadal Dysgenesis Gonadal Dysgenesis A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. Anomalous development of the gonads, resulting in reduced hormone production and germ cell numbers. The gonads are completely or partially underdeveloped and comprise mainly fibrous tissue. C26786 Gonadal Disorder C118467 Pediatric Endocrine Terminology C61443 Amenorrhea Amenorrhea The absence of menses in a woman who has achieved reproductive age. The absence of menses in a female individual who has achieved reproductive age. C27020 Female Reproductive System Disorder C118467 Pediatric Endocrine Terminology C61444 Hirsutism Hirsutism Male-pattern hair growth on a female. Male-pattern hair growth in a female individual. C36281 Integumentary System Finding C118467 Pediatric Endocrine Terminology C62587 Delayed Puberty Delayed Puberty Constitutional Growth Delay|Pubertal Delay Unusually late sexual maturity. Lack of onset of breast development by the age of 13 years in girls and the absence of testicular enlargement by the age of 13-14 years in boys. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C62591 Hypopituitarism Hypopituitarism A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. Subnormal concentration of two or more pituitary hormones. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C62602 Secondary Adrenal Insufficiency Central Adrenal Insufficiency Central Hypoadrenalism A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex. Diminished production of adrenocortical hormones due to a condition originating in the hypothalamus and/or pituitary gland. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C6432 Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Syndrome(s) MEN Syndromes An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are three types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, and type 2B (MEN 2B) also caused by mutation of the RET gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. A genetically heterogenous group of autosomal dominant neoplastic syndromes characterized by the development of neoplasms in various endocrine organs. C3010 Endocrine Neoplasm C118467 Pediatric Endocrine Terminology C6920 Hand-Schuller-Christian Disease Multifocal Unisystem Langerhans Cell Histiocytosis Classic Multifocal Langerhans Cell Histiocytosis|Hand-Schüller-Christian Disease A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. C123396 Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement C118467 Pediatric Endocrine Terminology C7461 Somatotroph Adenoma Growth Hormone-Producing Adenoma An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. A non-malignant pituitary tumor that produces growth hormone. C3329 Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C7462 Corticotroph Adenoma ACTH-Producing Pituitary Adenoma An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. A non-malignant pituitary neoplasm that produces adrenocorticotropic hormone. C3329 Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C74988 Holoprosencephaly Holoprosencephaly Holoprosencephaly Sequence A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures. Incomplete development of the forebrain that may be associated with midfacial anomalies and pituitary hormone deficiencies. C97172 Congenital Nervous System Disorder C118467 Pediatric Endocrine Terminology C75019 Sotos Syndrome Sotos Syndrome Cerebral Gigantism Syndrome|Sotos' Syndrome An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay. An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay. C3101 Genetic Disorder C89330 Developmental Disorder C118467 Pediatric Endocrine Terminology C75020 Cleidocranial Dysplasia Cleidocranial Dysostosis Cleidocranial Dysplasia A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature. A rare autosomal dominant condition caused by mutation(s) in the RUNX2 gene, encoding runt-related transcription factor 2. This condition is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C75100 CHARGE Syndrome CHARGE Syndrome Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association|Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C75463 Prader-Willi Syndrome Prader-Willi Syndrome Prader-Labhart-Willi Syndrome|Prader-Willi-Labhart Syndrome A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism. A syndrome caused by loss of the paternal copy of the q11-q13 region of chromosome 15 due to deletion, maternal uniparental disomy, or imprinting defects. The condition is characterized by infantile hypotonia, feeding difficulties, and failure to thrive in the first year of life, progressing to hyperphagia and obesity. Other common features include hypopigmentation, distinctive facial features, short stature, small hands and feet, hypogonadism, and neurobehavioral issues. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C75479 Hypogonadotropic Hypogonadism with Anosmia Hypogonadotropic Hypogonadism with Anosmia Kallmann Syndrome An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia. An X-linked or autosomal dominant syndrome due to mutation(s) in a number of genes, including FGFR1 (encoding fibroblast growth factor receptor 1), KAL1 (encoding anosmin-1), PROKR2 (encoding prokineticin receptor-2), CDH7 (encoding chromodomain helicase DNA binding protein 7), and FGF8 (encoding fibroblast growth factor 8). This condition is characterized by an impaired sense of smell and a deficiency of gonadotropin-releasing hormone, resulting in hypogonadotropic hypogonadism. Additional features may include cleft lip or palate, unilateral kidney dysgenesis, and synkinesia. C9227 Hypogonadism C28193 Syndrome C118467 Pediatric Endocrine Terminology C78350 Hypoparathyroidism Hypoparathyroidism An endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions. Decreased production or secretion of parathyroid hormone by the parathyroid gland, resulting in hypocalcemia due to decreased release of calcium and phosphate from bone matrix, decreased renal calcium reabsorption, and decreased renal production of 1,25-dihydroxyvitamin D-3, which decreases intestinal absorption of calcium. Hypoparathyroidism is also associated with hyperphosphatemia as a result of hypophosphaturia. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C79597 Hypertrichosis Hypertrichosis Excessive hair growth anywhere on the body. Excessive hair growth anywhere on the body. C36281 Integumentary System Finding C118467 Pediatric Endocrine Terminology C79704 Precocious Puberty Precocious Puberty Unusually early sexual maturity. Onset and progression of breast development before the age of 8 years in girls and testicular enlargement before the age of 9 years in boys. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C8011 Thyrotroph Adenoma Thyroid Stimulating Hormone-Producing Adenoma TSH-producing Adenoma A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism. A benign pituitary tumor that produces thyroid-stimulating hormone. C3329 Pituitary Gland Adenoma C118467 Pediatric Endocrine Terminology C8054 Thyroid Gland Follicular Carcinoma Follicular Thyroid Carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. C3414 Thyroid Tumor C118467 Pediatric Endocrine Terminology C83495 Accelerated Growth Accelerated Growth A finding indicating a faster than normal rate of development. Linear growth rate greater than the 50th percentile for age and sex. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C84449 Childhood Obesity Childhood Obesity A condition in which a child's body mass index (BMI) falls at or above the 95th percentile based on the normative values for the age and sex of the reference population. A condition in which a child's body mass index (BMI) falls at or above the 95th percentile based on the normative values for the age and sex of the reference population. C89328 Pediatric Disorder C118467 Pediatric Endocrine Terminology C84522 Deletion 18q Syndrome Chromosome 18q Deletion Syndrome 18q Deletion Syndrome|18q-Syndrome A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84533 Acromegaly Acromegaly A syndrome characterized by enlargement of the hands, feet, ears, nose, lips, and tongue, skin thickening and swelling of internal organs. It is caused by overproduction of growth hormone in the pituitary gland, usually by a pituitary adenoma. Excessive growth of body tissues due to overproduction of growth hormone in an individual who has completed linear growth. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C84549 Alstrom Syndrome Alström Syndrome A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure. An autosomal recessive syndrome caused by mutation(s) in the ALMS1 gene encoding Alstrom syndrome protein 1. The condition is characterized by hyperphagia, obesity, insulin resistance, type 2 diabetes mellitus, hypogonadism, blindness, hearing loss, dilated cardiomyopathy and congestive heart failure, and hepatic and renal failure. Additionally, polycystic ovarian syndrome may occur in female individuals. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84594 Berardinelli-Seip Congenital Lipodystrophy Congenital Generalized Lipodystrophy Berardinelli Lipodystrophy Syndrome|Berardinelli Seip Syndrome|Lawrence-Seip Syndrome|Seip-Bernardinelli Syndrome|Total Lipodystrophy A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus. An autosomal recessive condition associated with mutation(s) in multiple genes: the CAV1 gene (encoding caveolin-1); the AGPAT2 gene (encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase beta); the BSCL2 gene (encoding seipin); or the PTRF gene (encoding polymerase I and transcript release factor). Clinical manifestations include lipoatrophy affecting the trunk, limbs, and face; acromegaloid features; hepatomegaly secondary to hepatic steatosis; skeletal muscle hypertrophy; hypertrophic cardiomyopathy; hypertriglyceridemia; severe insulin resistance; and impaired glucose tolerance or diabetes. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84609 Campomelic Dysplasia Campomelic Dysplasia CMD A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads ("sex reversal"), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia. C84978 Osteochondrodysplasia C118467 Pediatric Endocrine Terminology C84610 Camurati-Engelmann Syndrome Progressive Diaphyseal Dysplasia Camurati-Englemann Disease An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness. An autosomal dominant form of craniotubular hyperostosis due to mutation(s) in the TGFB1 gene, encoding transforming growth factor beta-1. In addition to the long bone dysplasia, anemia, leukopenia, and hepatosplenomegaly may occur. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84615 Carbohydrate-Deficient Glycoprotein Syndrome Carbohydrate-Deficient Glycoprotein Syndrome Congenital Disorders of Glycosylation An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism. A group of metabolic syndromes present at birth that result from deficient N-glycosylation of proteins. The manifestations are heterogenous and multi-systemic, and may include hypoglycemia due to hyperinsulinism and growth failure. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C84617 Cardiofaciocutaneous Syndrome Cardiofaciocutaneous Syndrome CFC Syndrome A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay. A rare, genetic syndrome most often caused by BRAF gene mutations, and characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin conditions, heart malformations, developmental delay, developmental delay and possible short stature due to reduced growth hormone. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84652 Costello Syndrome Costello Syndrome A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms. An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84668 Denys-Drash Syndrome Denys-Drash Syndrome Nephrotic Syndrome Type 4 A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. A Wilms tumor 1 gene syndrome caused by various point mutation(s) affecting the zinc finger(s) of the Wilms tumor protein. This syndrome is characterized by congenital nephropathy (diffuse mesangial sclerosis), gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and high risk for development of Wilms tumor, an embryonal neoplasm defined by the presence of epithelial, mesenchymal, and blastema components. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84676 Donohue Syndrome Donohue Syndrome A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia. An autosomal recessive condition caused by mutation(s) in the INSR gene encoding the insulin receptor, and characterized by the following: insulin resistance; prenatal growth restriction and small for gestational age birth; small, elfin-like facies with protuberant ears; postnatal failure to thrive; relatively large hands, feet, and genitalia; muscle atrophy; and hypertrichosis. The condition is typically diagnosed early in life, with death usually occurring before age two years. The symptoms and course of this syndrome are the most severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigerians and Hyperandrogenism and Rapson-Mendenhall Syndrome. C28193 Syndrome C118467 Pediatric Endocrine Terminology Leprechaunism C84679 Dystrophia Myotonica 1 Myotonic Dystrophy 1 Steinert Disease|Steinert Myotonic Dystrophy Syndrome|Steinert Syndrome A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts. An autosomal dominant condition caused by heterozygous trinucleotide repeat expansion(s) (CTG)n in the 3-prime untranslated region of the DMPK gene, encoding myotonin-protein kinase. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes. C84914 Myotonic Dystrophy C118467 Pediatric Endocrine Terminology C84680 Dystrophia Myotonica 2 Myotonic Dystrophy 2 Ricker Syndrome A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities. An autosomal dominant condition caused by heterozygous tetranucleotide repeat expansion(s) (CCTG)n in intron 1 of the CNBP gene, encoding cellular nucleic acid-binding protein. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes. Myotonic dystrophy 2 is rarer and usually manifests with less severe symptoms than myotonic dystrophy 1. C84914 Myotonic Dystrophy C118467 Pediatric Endocrine Terminology C84686 Empty Sella Syndrome Empty Sella Syndrome Empty Sella A syndrome characterized by flattening or regression of the pituitary gland within the sella turcica cavity, resulting in an MRI image of an empty sella turcica. Signs and symptoms are secondary to pituitary gland hypofunction. A condition in which the pituitary gland is displaced or absent from the Sella Turkic (pituitary fossa), which appears empty on radiographic examination. Individuals may be asymptomatic or deficient in one or more pituitary hormones. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84708 Familial Partial Lipodystrophy Congenital Partial Lipodystrophy Familial Partial Lipodystrophy An autosomal dominant inherited disorder that appears in childhood or adolescence. It is characterized by loss of adipose tissue in the extremities and accumulation of adipose tissue in the face and neck. Partial lipodystrophy, the cause of which is present at birth. Several sub-types of congenital/familial partial lipodystrophy with varying phenotype have been identified. Genes associated with this condition include the LMNA gene, encoding nuclear laminins A and C; the PPARG gene, encoding peroxisome proliferator-activated receptor gamma; the AKT2 gene, encoding RAC-beta serine/threonine-protein kinase, and the PLIN1 gene, encoding perilipin 1. C97093 Lipodystrophy C118467 Pediatric Endocrine Terminology C84717 Fragile X Syndrome Fragile X Syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. An X-linked dominant syndrome caused by expansion of the CGG triplets in the 5' promoter region of the FMR1 gene to over 200 copies. This expansion becomes hypermethylated, silencing the FMR1 gene expression, and subsequently completely inhibiting the expression of the fragile X mental retardation protein 1 (FMRP). The condition is characterized by a variety of developmental, emotional, behavioral, and physical symptoms, including learning disabilities and macroorchidism. Intermediate expansion of the CGG triplet (between 55 and 200 repeats) may be associated with a milder phenotype due to reduced expression of FMRP. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84798 Kearns-Sayre Syndrome Kearns-Sayre Syndrome A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature. A genetically heterogenous condition caused by various deletions of mitochondrial DNA. The condition is characterized by myopathy, with "ragged red" fibers on histopathology of muscle biopsy, progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects, ataxia, cognitive impairment, and diabetes mellitus. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84820 LEOPARD Syndrome LEOPARD Syndrome Lentigines, Electrocardiographic Conduction Defects, 0cular Hypertelorism, Pulmonary Stenosis, Abnormalities of the Genitals, Retarded Growth, Deafness|Multiple Lentigines Syndrome A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness. A genetic syndrome caused by mutation(s) in the PTPN11, RAF1, or the BRAF genes, encoding tyrosine-protein phosphatase non-receptor type 11 and RAF proto-oncogene serine/threonine-protein kinase, and serine/threonine-protein kinase B-raf, respectively. Affected male individuals may exhibit unilateral or bilateral cryptorchidism, small penis, and/or hypospadias (urinary meatus on the dorsal side of the penis). Affected female individuals may have ovarian hypoplasia or agenesis. Primary hypogonadism in both female and male individuals may result in delayed puberty. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84885 MELAS Syndrome Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke MELAS A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. A maternally inherited condition characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84906 Mulibrey Nanism Mulibrey Nanism An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain. An autosomal recessive disorder caused by mutation(s) in the TRIM37 gene, encoding E3 ubiquitin-protein ligase TRIM37. Mulibrey is a contraction of muscle, liver, brain, and eyes. "Nanism" is a synonym for "dwarfism". This condition is associated with characteristic facial features, including hypertelorism, pubertal delay, occasional progressive cardiomyopathy, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor. C28193 Syndrome C118467 Pediatric Endocrine Terminology C84919 Nephrogenic Diabetes Insipidus Nephrogenic Diabetes Insipidus Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone. Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone (vasopressin), which is caused by mutation(s) in the AVPR2 gene, encoding the vasopressin V2 receptor (antidiuretic hormone receptor), or by mutation(s) in the AQP2 gene, encoding aquaporin-2. Inheritance may by X-linked (AVPR2) or autosomal dominant or recessive (AQP2). C43263 Diabetes Insipidus C118467 Pediatric Endocrine Terminology C84933 Neurogenic Diabetes Insipidus Central Diabetes Insipidus ADH Deficiency|AVP deficiency|Antidiuretic Hormone Deficiency|Arginine Vasopressin Deficiency|Neurogenic Diabetes Insipidus|Vasopressin Deficiency Diabetes insipidus caused by decreased secretion of antidiuretic hormone from the pituitary gland. Diabetes insipidus caused by a decrease in the secretion of antidiuretic hormone (vasopressin) from the posterior pituitary gland; causes include autoimmune and/or inflammatory conditions, congenital anomalies of the central nervous system and pituitary gland, mutation(s) of the AVP gene, irradiation to the region, neoplasia, surgery, and trauma. C43263 Diabetes Insipidus C118467 Pediatric Endocrine Terminology C84978 Osteochondrodysplasia Osteochondrodysplasia Congenital Skeletal Dysplasia|Skeletal Dysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. Abnormalities in development and growth of bone and cartilage. C89337 Congenital Musculoskeletal Defect C118467 Pediatric Endocrine Terminology C84987 Pallister-Hall Syndrome Pallister-Hall Syndrome Ano-cerebro-digital Syndrome|Hypothalamic Hamartoblastoma Syndrome A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft. A syndrome caused by dominant negative mutations in the GLI3 gene, encoding the transcriptional activator GLI3. The condition is characterized by a spectrum of clinical features including hypothalamic hamartoma, hypopituitarism, bifid epiglottis, laryngotracheal cleft, polydactyly, and cutaneous syndactyly. C28193 Syndrome C118467 Pediatric Endocrine Terminology C85063 Septo-Optic Dysplasia Septo-Optic Dysplasia De Morsier syndrome|Septo-Optic Dysplasia Sequence A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism. A genetically heterogenous syndrome that may be caused by mutation(s) in the HESX1, OTX2, and SOX2 genes, encoding homeobox expressed in ES cells 1, homeobox protein OTX2, and transcription factor SOX-2, respectively. Clinical features may include hypoplasia of the optic nerve(s), impaired vision, absence of the septum pellucidum, hypopituitarism, and behavior disturbances. C98999 Optic Nerve Hypoplasia C118467 Pediatric Endocrine Terminology C85068 Russell-Silver Syndrome Russell-Silver Syndrome Silver-Russell Syndrome A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. A genetic syndrome characterized by prenatal growth restriction, postnatal failure to thrive, short stature, hypoglycemia, insulin resistance, characteristic "triangular" facial shape, asymmetry of limbs, and camptodactyly or clinodactyly. Many cases are due to DNA hypomethylation of the imprinting control region 1 on chromosome 11p15.5, affecting the imprinting of H19 and IGF2 genes or maternal uniparental disomy of chromosome 7. C3101 Genetic Disorder C89330 Developmental Disorder C118467 Pediatric Endocrine Terminology C85071 Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present. An autosomal recessive syndrome caused by mutations in the DHCR7 gene, encoding 7-dehydrocholesterol reductase, the enzyme responsible for the first step of cholesterol synthesis. The enzyme deficiency results in reduced production of steroid hormones and underdevelopment of male genitalia due to androgen deficiency. This condition may also be associated with microcephaly, developmental delay, characteristic facial anomalies, and syndactyly. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C85190 Thyroid Dysgenesis Thyroid Dysgenesis A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism. A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C85191 Thyroid Hormone Resistance Syndrome Thyroid Hormone Resistance Thyroid Hormone Resistance Syndrome A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. Reduced response to thyroid hormones in the peripheral tissues and/or in the pituitary gland. C28193 Syndrome C118467 Pediatric Endocrine Terminology C85225 Waterhouse-Friderichsen Syndrome Waterhouse-Friderichsen Syndrome A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. Catastrophic adrenal insufficiency and acute cardiovascular collapse due to adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis. C28193 Syndrome C118467 Pediatric Endocrine Terminology C85232 Williams Syndrome Williams Syndrome Williams-Beuren Syndrome A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia. A syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes, and characterized by distinctive facial appearance (elfin facies), mild-to-moderate developmental delay, cheerfulness, cardiovascular dysfunction which may include supravalvular aortic stenosis, and endocrine abnormalities, including precocious puberty, hypothyroidism, and infantile hypercalcemia/ hypercalciuria. C3101 Genetic Disorder C118467 Pediatric Endocrine Terminology C85234 X-Linked Dominant Hypophosphatemic Rickets X-linked Dominant Hypophosphatemic Rickets Hypophosphatemic Vitamin D-resistant Rickets|Vitamin D-resistant Rickets An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus. Hypophosphatemic rickets due to renal phosphate wasting as a result of mutation(s) in the X-chromosomal PHEX gene, encoding phosphate-regulating neutral endopeptidase. This condition is characterized by normal serum calcium, increased serum alkaline phosphatase, low or inappropriately normal concentrations of 1,25-dihydroxyvitamin D (calcitriol), variable short stature, frontal bossing, dental abscesses, tibial bowing, and inflammation of the insertion sites of ligaments and tendons. C26878 Rickets C118467 Pediatric Endocrine Terminology Hereditary 1,25(OH)2D-resistant Rickets|X-linked Hypophosphatemic Rickets C85237 47,XYY Syndrome 47,XYY Syndrome 47,XYY|XYY Syndrome A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal. A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal. C28193 Syndrome C118467 Pediatric Endocrine Terminology C9227 Hypogonadism Hypogonadism Gonadotropin Deficiency A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. Decreased or absent production of sex steroids by the ovaries or testes. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C93046 Gigantism Pituitary Gigantism A clinical finding indicating abnormal and excessive body growth and height resulting from the overproduction of human growth hormone. Extreme tall stature and other overgrowth manifestations due to increased growth hormone secretion while the skeletal growth plates are open. C36285 Endocrine System Finding C118467 Pediatric Endocrine Terminology C9309 Seminoma Seminoma A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes. A germinomatous germ cell tumor originating in the testis. C3708 Germ Cell Tumor C118467 Pediatric Endocrine Terminology C94830 Familial Isolated Hyperparathyroidism Familial Isolated Hyperparathyroidism FIHP A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. Primary hyperparathyroidism of autosomal dominant or recessive inheritance, associated with mutation(s) in any of the following genes: MEN1 (encoding menin); CASR (extracellular calcium-sensing receptor); or CDC73 (parafibromin), although many cases have no identifiable mutation. C48259 Hyperparathyroidism C118467 Pediatric Endocrine Terminology C95598 Pancreatic Insulinoma Insulinoma An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. A usually benign tumor of insulin secreting pancreatic beta cells, associated with hypoglycemia. C3009 Endocrine System Disorder C118467 Pediatric Endocrine Terminology C97093 Lipodystrophy Lipodystrophy Lipodsystrophic Syndromes A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. A heterogenous group of disorders characterized by loss and/or redistribution of subcutaneous and/or visceral adipose tissue that may be partial or generalized, congenital or acquired. C3235 Metabolic Disease C118467 Pediatric Endocrine Terminology C98810 Ambiguous Genitalia Atypical Genitalia A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia. External genitalia that are neither typically male nor typically female in appearance. C103185 Congenital Reproductive System Abnormality C118467 Pediatric Endocrine Terminology Ambiguous Genitalia C98873 Type II Acrocephalopolysyndactyly Type II Acrocephalopolysyndactyly Acrocephalopolysyndactyly Type II|Carpenter 's Syndrome|Carpenter Syndrome An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. An autosomal recessive syndrome due to mutation(s) in the RAB23 gene, encoding RAB23, member of the RAS oncogene family and the MEGF8 gene, encoding multiple EGF like domains 8. This condition is characterized by growth failure and craniosynostosis leading to acrocephaly, brachydactyly with syndactly, congenital heart defects, hypogonadism, and obesity. *Check with Liz about this phrasing. Something seems off to me about this, but as this is her expertise not mine, I shall defer to her. C34348 Acrocephalosyndactyly C118467 Pediatric Endocrine Terminology C99142 OEIS Complex OEIS Syndrome Cloacal Exstrophy|Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities. A spectrum of anomalies without common etiology that occurs during development of the abdominal wall. Clinical features may include omphalocele, exstrophy of the bladder and rectum, imperforate anus, and spinal defects. Genital and reproductive anomalies may include bifid penis, clitoris, and/or uterus. C97151 Congenital Systemic Disorder C118467 Pediatric Endocrine Terminology C99233 Neonatal Rickets Metabolic Bone Disease of Prematurity Neonatal Rickets|Osteopenia of Prematurity|Rickets of Prematurity Rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays. A condition characterized by decreased mineral content of the bone of a fetus or infant due to inadequate availability of calcium and/or phosphorus. Associated risk factors include the degree of prematurity, low birth weight, medication exposures, immobilization, and nutrient insufficiency. Metabolic bone disease of prematurity is characterized by hypophosphatemia, hyperphosphatasia, and secondary hyperparathyroidism, and may include rachitic bony changes and fractures. Inadequate bone mineralization may contribute to bronchopulmonary dysplasia and poor growth. C26878 Rickets C98996 Neonatal Disorder C118467 Pediatric Endocrine Terminology C99248 Neonatal Diabetes Mellitus Neonatal Diabetes Mellitus Congenital Diabetes Mellitus Hyperglycemia in the newborn due to a defect in the secretion or function of insulin. Diabetes mellitus occurring in the first six months of life. C2985 Diabetes Mellitus C98996 Neonatal Disorder C118467 Pediatric Endocrine Terminology