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Definition

A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).

Acronym

AH3

Synonyms

Adrenal hyperplasia type III
AH-III
CAH1
Congenital adrenal hyperplasia 1
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Hyperandrogenism nonclassic type due to 21-hydroxylase deficiency

Keywords

Congenital adrenal hyperplasia