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Article

Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.

The Journal of clinical endocrinology and metabolism - 1 Aug 2002

Katsumata Noriyuki, Ohtake Masatoshi, Hojo Toru, Ogawa Eishin, Hara Takayuki, Sato Naoko, Tanaka Toshiaki

Abstract excerpt

Cholesterol side-chain cleavage enzyme (P450scc) catalyzes the conversion of cholesterol to pregnenolone in mitochondria, which is the first step in the biosynthesis of all steroid hormones. Until now, no homozygous or compound heterozygous mutations in CYP11A have been described in humans. Here we describe novel compound heterozygous mutations in CYP11A in a patient with congenital adrenal insufficiency born to...

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Source

Identifiers

PMID: 12161514
DOI: 10.1210/jcem.87.8.8763

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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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Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.PMID 12161514Read ↗

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