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Keyword - Congenital adrenal hyperplasia (KW-0954)

Definition

Protein which, if defective, causes congenital adrenal hyperplasia, a group of inherited disorders of cortisol biosynthesis. Defective cortisol biosynthesis results in compensatory hypersecretion of corticotropin with subsequent adrenal hyperplasia and excessive androgen production. Various clinical types are recognized: "salt wasting form" is the most severe type, "simple virilizing form" with normal aldosterone biosynthesis, "non-classic form" or late onset, and "cryptic form" or asymptomatic.

Synonyms

  • CAH

Category

Disease

Graphical

Congenital adrenal hyperplasiaDisease