Conditions Genes Testing Resources
	Home >  Conditions >	Bookmark & Share
	Genetic Conditions: Endocrine 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. - A - 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 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 polyglandular syndrome, type 1 Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome - B - 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 Breast cancer - C - CAH1 see 21-hydroxylase deficiency Cancer of breast see Breast cancer Carney complex Cerebelloretinal angiomatosis, familial see von Hippel-Lindau syndrome CH see Congenital hypothyroidism Combined partial deficiency of 17-hydroxylase and 21-hydroxylase see Cytochrome P450 oxidoreductase deficiency Congenital hypothyroidism Cowden syndrome Cretinism see Congenital hypothyroidism CS see Cowden syndrome CYP21 deficiency see 21-hydroxylase deficiency Cytochrome P450 oxidoreductase deficiency - D - Deafness with goiter see Pendred syndrome 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome DHTR deficiency see Androgen insensitivity syndrome Dihydrotestosterone receptor deficiency see Androgen insensitivity syndrome - E - Endocrine Neoplasia, Multiple see Multiple endocrine neoplasia - F - Familial apoceruloplasmin deficiency see Aceruloplasminemia Familial endocrine adenomatosis see Multiple endocrine neoplasia Familial incomplete male pseudohermaphroditism, type 2 see 5-alpha reductase deficiency Fibrous Dysplasia, Polyostotic see McCune-Albright syndrome Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome Fra(X) syndrome see Fragile X syndrome Fragile X syndrome FRAXA Syndrome see Fragile X syndrome FXS see Fragile X syndrome - G - GDXY see Swyer syndrome Goiter-deafness syndrome see Pendred syndrome Gonadal dysgenesis, 46,XY see Swyer syndrome Gonadal dysgenesis, XY female type see Swyer syndrome - H - Hereditary ceruloplasmin deficiency see Aceruloplasminemia Hippel-Lindau Disease see von Hippel-Lindau syndrome 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 Hypoceruloplasminemia see Aceruloplasminemia Hypogonadotropic hypogonadism and anosmia see Kallmann syndrome Hypogonadotropic hypogonadism-anosmia syndrome see Kallmann syndrome - I - Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Inherited thyroxine-binding globulin deficiency IPEX syndrome see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome - J - - K - Kallmann syndrome Klinefelter syndrome - L - LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome see Carney complex - M - 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 McCune-Albright syndrome MEA see Multiple endocrine neoplasia MEN see Multiple endocrine neoplasia MHAM see Cowden syndrome Monosomy X see Turner syndrome Multiple endocrine neoplasia Multiple hamartoma syndrome see Cowden syndrome Myxedema, Congenital see Congenital hypothyroidism - N - NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome see Carney complex - O - Osteitis fibrosa disseminata see McCune-Albright syndrome - P - Pendred syndrome PFD see McCune-Albright syndrome PGA I see Autoimmune polyglandular syndrome, type 1 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 Pseudovaginal perineoscrotal hypospadias see 5-alpha reductase deficiency Pure gonadal dysgenesis 46,XY see Swyer syndrome PWS see Prader-Willi syndrome - Q - - R - Rogers syndrome see Thiamine-responsive megaloblastic anemia syndrome RSH Syndrome see Smith-Lemli-Opitz syndrome - S - Schilder-Addison Complex see X-linked adrenoleukodystrophy SLO syndrome see Smith-Lemli-Opitz syndrome SLOS see Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Steroid 5-alpha-reductase deficiency see 5-alpha reductase deficiency Swyer syndrome Systemic hemosiderosis due to aceruloplasminemia see Aceruloplasminemia - T - TBG deficiency see inherited thyroxine-binding globulin deficiency Testicular feminization see Androgen insensitivity syndrome Thiamine-responsive megaloblastic anemia syndrome Triple A syndrome TRMA see Thiamine-responsive megaloblastic anemia syndrome TS see Turner syndrome Turner syndrome Type II 3β-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency - U - Ullrich-Turner syndrome see Turner syndrome - V - VHL syndrome see von Hippel-Lindau syndrome von Hippel-Lindau syndrome - W - Werner syndrome Willi-Prader syndrome see Prader-Willi syndrome WS see Werner syndrome - X - 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 XY pure gonadal dysgenesis see Swyer syndrome - Y - - Z - The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.