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.

• aceruloplasminemia
• Adenomatosis, Familial Endocrine see multiple endocrine neoplasia
• Adrenal hypoplasia congenita see X-linked adrenal hypoplasia congenita
• Adrenogenital Syndrome see 21-hydroxylase deficiency
• 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
• 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
• 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
• 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
• breast cancer
• Cancer of breast see breast cancer
• Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
• CH see congenital hypothyroidism
• Congenital Adrenal Hyperplasia see 21-hydroxylase deficiency
• congenital hypothyroidism
• Cowden syndrome
• Cretinism see congenital hypothyroidism
• CS see Cowden syndrome
• 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
• Endocrine Neoplasia, Multiple see multiple endocrine neoplasia
• 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
• 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
• hereditary ceruloplasmin deficiency see aceruloplasminemia
• Hippel-Lindau Disease see von Hippel-Lindau syndrome
• 21-hydroxylase 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
• immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• Kallmann syndrome
• Klinefelter syndrome
• 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
• osteitis fibrosa disseminata see McCune-Albright syndrome
• 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
• 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
• RSH Syndrome see Smith-Lemli-Opitz syndrome
• 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
• Testicular feminization see androgen insensitivity syndrome
• TS see Turner syndrome
• Turner syndrome
• Ullrich-Turner syndrome see Turner syndrome
• VHL syndrome see von Hippel-Lindau syndrome
• von Hippel-Lindau syndrome
• Werner 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
• 46,XY CGD see Swyer syndrome
• 46,XY complete gonadal dysgenesis see Swyer syndrome
• XY pure gonadal dysgenesis see Swyer syndrome