Endocrine Diseases | Page 1

1 Diseases

11-beta-hydroxylase deficiency 17-alpha-hydroxylase deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency 18 Hydroxylase deficiency

2 Diseases

22q11.2 deletion syndrome

3 Diseases

3-alpha hydroxyacyl-CoA dehydrogenase deficiency 3-beta-hydroxysteroid dehydrogenase deficiency

4 Diseases

46,XX testicular disorder of sex development 47 XXX syndrome 48,XXXY syndrome 49, XXXXY syndrome

5 Diseases

5-alpha reductase deficiency

A Diseases

Abetalipoproteinemia Acquired generalized lipodystrophy Acromegaly ACTH-independent macronodular adrenal hyperplasia ACTH-secreting pituitary adenoma Addison's disease Adrenocortical carcinoma Adrenomyeloneuropathy Adrenomyodystrophy Ahumada Del Castillo syndrome Allan-Herndon-Dudley syndrome Alpha-thalassemia x-linked intellectual disability syndrome Alström syndrome Anorchia Arachnoid cysts AREDYLD Aromatase deficiency Aromatase excess syndrome Ataxia - hypogonadism - choroidal dystrophy Ataxia telangiectasia Autoimmune polyglandular syndrome type 1 Autoimmune polyglandular syndrome type 2 Autoimmune polyglandular syndrome type 3 Axenfeld-Rieger syndrome Ayazi syndrome

B Diseases

Bamforth syndrome Bangstad syndrome Barakat syndrome Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 2 Barraquer-Simons syndrome Beta-thalassemia Borjeson-Forssman-Lehmann syndrome Brain-lung-thyroid syndrome

C Diseases

Campomelic dysplasia Carney complex Carney triad Carpenter syndrome Central nervous system germinoma Cerebellar ataxia and hypogonadotropic hypogonadism Cerebrotendinous xanthomatosis CHARGE syndrome Cholesteryl ester storage disease Chordoma Chylomicron retention disease Coffin-Lowry syndrome Cohen syndrome Combined pituitary hormone deficiencies, genetic forms Complete androgen insensitivity syndrome Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital generalized lipodystrophy Congenital generalized lipodystrophy type 2 Congenital generalized lipodystrophy type 4 Corticosteroid-binding globulin deficiency Craniopharyngioma Culler-Jones syndrome Cushing's syndrome

D Diseases

Dahlberg Borer Newcomer syndrome Deafness hypogonadism syndrome Dentatorubral-pallidoluysian atrophy Denys-Drash syndrome Diencephalic syndrome Dilated cardiomyopathy with hypergonadotropic hypogonadism

E Diseases

Epiphyseal dysplasia multiple with early-onset diabetes mellitus

F Diseases

Familial chylomicronemia syndrome Familial glucocorticoid deficiency Familial HDL deficiency Familial hyperaldosteronism type 2 Familial hyperaldosteronism type III Familial hyperthyroidism due to mutations in TSH receptor Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial LCAT deficiency Familial lipoprotein lipase deficiency Familial partial lipodystrophy associated with PLIN1 mutations Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy due to AKT2 mutations Familial partial lipodystrophy type 2 Familial partial lipodystrophy type Köbberling Familial thyroglossal duct cyst Fish-eye disease Follicle-stimulating hormone deficiency, isolated Fragile X syndrome