Endocrine system (hormones)

The endocrine system is a complex collection of hormone-producing glands that control basic body functions such as growth and sexual development. Advances in molecular genetics have led to a deeper understanding of the mechanisms involved in hereditary endocrine disorders.

• AAA see triple A syndrome
• aceruloplasminemia
• Achalasia-addisonian syndrome see triple A syndrome
• Achalasia-Addisonianism-Alacrima syndrome see triple A syndrome
• Achalasia-alacrima syndrome see triple A syndrome
• Adenomatosis, Familial Endocrine see multiple endocrine neoplasia
• adrenal hyperplasia, hypertensive form see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• Adrenal hypoplasia congenita see X-linked adrenal hypoplasia congenita
• Adrenoleukodystrophy see X-linked adrenoleukodystrophy
• Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
• Adult premature aging syndrome see Werner syndrome
• Adult Progeria see Werner syndrome
• AIRE deficiency see autoimmune polyglandular syndrome, type 1
• AIS see androgen insensitivity syndrome
• Alacrima-achalasia-adrenal insufficiency neurologic disorder see triple A syndrome
• Albright-McCune-Sternberg syndrome see McCune-Albright syndrome
• Albright-Sternberg syndrome see McCune-Albright syndrome
• Albright Syndrome see McCune-Albright syndrome
• Albright's disease see McCune-Albright syndrome
• ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
• Allgrove syndrome see triple A syndrome
• 5-alpha reductase deficiency
• androgen insensitivity syndrome
• angiomatosis retinae see von Hippel-Lindau syndrome
• anosmic hypogonadism see Kallmann syndrome
• anosmic idiopathic hypogonadotropic hypogonadism see Kallmann syndrome
• Antley-Bixler syndrome-like phenotype with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
• Antley-Bixler syndrome with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
• APECED see autoimmune polyglandular syndrome, type 1
• APS type 1 see autoimmune polyglandular syndrome, type 1
• APS1 see autoimmune polyglandular syndrome, type 1
• AR deficiency see androgen insensitivity syndrome
• autoimmune diabetes see type 1 diabetes
• autoimmune polyglandular syndrome, type 1
• Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome
• Ballinger-Wallace syndrome see maternally inherited diabetes and deafness
• 3 beta-HSD deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
• 3-beta-hydroxysteroid dehydrogenase deficiency
• 3 beta-ol dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
• 11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• breast cancer
• CAH1 see 21-hydroxylase deficiency
• Cancer of breast see breast cancer
• Carney complex
• CD see Cowden syndrome
• cerebelloretinal angiomatosis, familial see von Hippel-Lindau syndrome
• CH see congenital hypothyroidism
• chemodectoma see nonsyndromic paraganglioma
• combined partial deficiency of 17-hydroxylase and 21-hydroxylase see cytochrome P450 oxidoreductase deficiency
• combined pituitary hormone deficiency
• congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency see cytochrome P450 oxidoreductase deficiency
• congenital hyperinsulinism see familial hyperinsulinism
• congenital hypothyroidism
• Cowden syndrome
• CPHD see combined pituitary hormone deficiency
• Cretinism see congenital hypothyroidism
• CS see Cowden syndrome
• Cushing disease
• CYP21 deficiency see 21-hydroxylase deficiency
• cytochrome P450 oxidoreductase deficiency
• De Morsier syndrome see septo-optic dysplasia
• Deafness with goiter see Pendred syndrome
• 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
• DHTR deficiency see androgen insensitivity syndrome
• diabetes mellitus, type 1 see type 1 diabetes
• diabetes mellitus, type II, with deafness see maternally inherited diabetes and deafness
• Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome
• dwarfism, growth hormone deficiency see isolated growth hormone deficiency
• dwarfism, pituitary see isolated growth hormone deficiency
• Endocrine Neoplasia, Multiple see multiple endocrine neoplasia
• familial apoceruloplasmin deficiency see aceruloplasminemia
• familial cystic parathyroid adenomatosis see hyperparathyroidism-jaw tumor syndrome
• Familial Endocrine Adenomatosis see multiple endocrine neoplasia
• familial hyperaldosteronism
• familial hyperinsulinism
• Familial incomplete male pseudohermaphroditism, type 2 see 5-alpha reductase deficiency
• familial isolated hyperparathyroidism
• familial male-limited precocious puberty
• familial paraganglioma-pheochromocytoma syndromes see hereditary paraganglioma-pheochromocytoma
• familial primary hyperparathyroidism with multiple ossifying jaw fibromas see hyperparathyroidism-jaw tumor syndrome
• Fibrous Dysplasia, Polyostotic see McCune-Albright syndrome
• Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome
• FIHP see familial isolated hyperparathyroidism
• fra(X) syndrome see fragile X syndrome
• fragile X syndrome
• FRAXA syndrome see fragile X syndrome
• FXS see fragile X syndrome
• GDXY see Swyer syndrome
• GIPP see familial male-limited precocious puberty
• Goiter-deafness syndrome see Pendred syndrome
• Gonadal Dysgenesis, 46,XY see Swyer syndrome
• GONADAL DYSGENESIS, XY FEMALE TYPE see Swyer syndrome
• gonadotrophin-independent precocious puberty see familial male-limited precocious puberty
• growth hormone deficiency dwarfism see isolated growth hormone deficiency
• hereditary ceruloplasmin deficiency see aceruloplasminemia
• hereditary hyperparathyroidism-jaw tumor syndrome see hyperparathyroidism-jaw tumor syndrome
• hereditary paraganglioma-pheochromocytoma
• Hippel-Lindau disease see von Hippel-Lindau syndrome
• HPT-JT see hyperparathyroidism-jaw tumor syndrome
• 11b hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• 21-hydroxylase deficiency
• 3b-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
• Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency
• hypercortisolism see Cushing disease
• hyperinsulinemia hypoglycemia of infancy see familial hyperinsulinism
• hyperparathyroidism 1 see familial isolated hyperparathyroidism
• hyperparathyroidism-jaw tumor syndrome
• hypoceruloplasminemia see aceruloplasminemia
• hypogonadism with anosmia see Kallmann syndrome
• hypogonadotropic hypogonadism and anosmia see Kallmann syndrome
• hypogonadotropic hypogonadism-anosmia syndrome see Kallmann syndrome
• IDDM see type 1 diabetes
• immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• infancy hyperinsulinemia hypoglycemia see familial hyperinsulinism
• inherited thyroxine-binding globulin deficiency
• insulin-dependent diabetes mellitus see type 1 diabetes
• IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• isolated growth hormone deficiency
• JOD see type 1 diabetes
• juvenile diabetes see type 1 diabetes
• juvenile-onset diabetes see type 1 diabetes
• Kallmann syndrome
• Klinefelter syndrome
• LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome see Carney complex
• LCH see Leydig cell hypoplasia
• Leydig cell hypoplasia
• LH resistance due to LH receptor deactivation see Leydig cell hypoplasia
• male hypergonadotropic hypogonadism due to LHCGR defect see Leydig cell hypoplasia
• male pseudohermaphroditism due to 5-alpha-reductase deficiency see 5-alpha reductase deficiency
• Malignant neoplasm of breast see breast cancer
• malignant tumor of breast see breast cancer
• Mammary cancer see breast cancer
• marker X syndrome see fragile X syndrome
• Martin-Bell syndrome see fragile X syndrome
• MAS see McCune-Albright syndrome
• maternally inherited diabetes and deafness
• McCune-Albright syndrome
• MEA see multiple endocrine neoplasia
• MEN see multiple endocrine neoplasia
• MHAM see Cowden syndrome
• MIDD see maternally inherited diabetes and deafness
• mitochondrial inherited diabetes and deafness see maternally inherited diabetes and deafness
• monosomy X see Turner syndrome
• multiple endocrine neoplasia
• multiple hamartoma syndrome see Cowden syndrome
• Myxedema, Congenital see congenital hypothyroidism
• NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome see Carney complex
• neonatal hyperinsulinism see familial hyperinsulinism
• NIDDM with deafness see maternally inherited diabetes and deafness
• noninsulin-dependent diabetes mellitus with deafness see maternally inherited diabetes and deafness
• nonsyndromic paraganglioma
• osteitis fibrosa disseminata see McCune-Albright syndrome
• P450C11B1 deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• panhypopituitarism see combined pituitary hormone deficiency
• paragangliomas 1 see hereditary paraganglioma-pheochromocytoma
• paragangliomas 2 see hereditary paraganglioma-pheochromocytoma
• paragangliomas 3 see hereditary paraganglioma-pheochromocytoma
• paragangliomas 4 see hereditary paraganglioma-pheochromocytoma
• Pendred syndrome
• permanent neonatal diabetes mellitus
• persistent hyperinsulinemia hypoglycemia of infancy see familial hyperinsulinism
• persistent hyperinsulinemic hypoglycemia see familial hyperinsulinism
• PFD see McCune-Albright syndrome
• PGA I see autoimmune polyglandular syndrome, type 1
• PHHI hypoglycemia see familial hyperinsulinism
• pituitary ACTH hypersecretion see Cushing disease
• pituitary Cushing syndrome see Cushing disease
• pituitary-dependant Cushing syndrome see Cushing disease
• pituitary-dependant hypercortisolism see Cushing disease
• PNDM see permanent neonatal diabetes mellitus
• POFD see McCune-Albright syndrome
• Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune see autoimmune polyglandular syndrome, type 1
• Polyglandular autoimmune syndrome, type 1 see autoimmune polyglandular syndrome, type 1
• Polyglandular Type I Autoimmune Syndrome see autoimmune polyglandular syndrome, type 1
• Polyostotic Fibrous Dysplasia see McCune-Albright syndrome
• POR Deficiency see cytochrome P450 oxidoreductase deficiency
• PORD see cytochrome P450 oxidoreductase deficiency
• PPSH see 5-alpha reductase deficiency
• Prader-Labhart-Willi syndrome see Prader-Willi syndrome
• Prader-Willi syndrome
• precocious pseudopuberty see familial male-limited precocious puberty
• Pseudovaginal perineoscrotal hypospadias see 5-alpha reductase deficiency
• pubertas praecox see familial male-limited precocious puberty
• Pure gonadal dysgenesis 46,XY see Swyer syndrome
• PWS see Prader-Willi syndrome
• 6q24-related transient neonatal diabetes mellitus
• Rogers syndrome see thiamine-responsive megaloblastic anemia syndrome
• RSH Syndrome see Smith-Lemli-Opitz syndrome
• Schilder-Addison Complex see X-linked adrenoleukodystrophy
• septo-optic dysplasia
• septooptic dysplasia see septo-optic dysplasia
• SLO syndrome see Smith-Lemli-Opitz syndrome
• SLOS see Smith-Lemli-Opitz syndrome
• Smith-Lemli-Opitz syndrome
• SOD see septo-optic dysplasia
• Steroid 5-alpha-reductase deficiency see 5-alpha reductase deficiency
• steroid 11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• Swyer syndrome
• systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
• T1D see type 1 diabetes
• TBG deficiency see inherited thyroxine-binding globulin deficiency
• Testicular feminization see androgen insensitivity syndrome
• testotoxicosis see familial male-limited precocious puberty
• thiamine-responsive megaloblastic anemia syndrome
• 6q24-TNDM see 6q24-related transient neonatal diabetes mellitus
• TNDM type 1 see 6q24-related transient neonatal diabetes mellitus
• triple A syndrome
• TRMA see thiamine-responsive megaloblastic anemia syndrome
• TS see Turner syndrome
• Turner syndrome
• type 1 diabetes
• type II 3β-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
• Ullrich-Turner syndrome see Turner syndrome
• VHL syndrome see von Hippel-Lindau syndrome
• von Hippel-Lindau syndrome
• Werner syndrome
• Willi-Prader syndrome see Prader-Willi syndrome
• WS see Werner syndrome
• 45,X see Turner syndrome
• X-ALD see X-linked adrenoleukodystrophy
• X-linked adrenal hypoplasia congenita
• X-linked adrenoleukodystrophy
• X-linked mental retardation and macroorchidism see fragile X syndrome
• 46,XX testicular disorder of sex development
• XX male syndrome see 46,XX testicular disorder of sex development
• XX sex reversal see 46,XX testicular disorder of sex development
• 47,XXY see Klinefelter syndrome
• XXY syndrome see Klinefelter syndrome
• XXY trisomy see Klinefelter syndrome
• 48,XXYY syndrome
• XXYY syndrome see 48,XXYY syndrome
• 46,XY CGD see Swyer syndrome
• 46,XY complete gonadal dysgenesis see Swyer syndrome
• 46,XY disorder of sex development due to LH defects see Leydig cell hypoplasia
• XY pure gonadal dysgenesis see Swyer syndrome