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Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

rare

A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

Identifiers
MONDO:0008730 OMIM:202110Orphanet:90793
Causal genes
CYP17A1
Part of
Congenital adrenal hyperplasiaReproductive system disorder
Also known as
17-alpha-hydroxylase/17,20-lyase deficiency · CAH due to 17-alpha-hydroxylase deficiency · combined 17-hydroxylase/17,20-lyase deficiency · congenital adrenal hyperplasia type 5

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