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Congenital adrenal hyperplasia

rare

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.

Identifiers
MONDO:0018479 Orphanet:418
Part of
Adrenogenital syndromeChronic primary adrenal insufficiencyHereditary endocrine growth diseaseSteroid inherited metabolic disorder
Also known as
adrenal hyperplasia, congenital · CAH · congenital adrenal gland hyperplasia

Subtypes

All diseases Rare only
Disease Subtypes
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2
Congenital lipoid adrenal hyperplasia due to STAR deficency 2
Classic congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Non-classic congenital adrenal hyperplasia

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