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Article

Mutations in steroid 21-hydroxylase (CYP21).

Human mutation - 1 Jan 1994

White P C, Tusie-Luna M T, New M I, Speiser P W

Abstract excerpt

The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21-hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21-hydroxylase (P450c21) is a microsomal enzyme expressed in the adrenal gland that catalyzes conversion of 17-hydroxyprogesterone and progesterone to...

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Source

Identifiers

PMID: 8081391
DOI: 10.1002/humu.1380030408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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