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Article

Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.

The Journal of clinical endocrinology and metabolism - 1 Mar 2011

Sahakitrungruang Taninee, Tee Meng Kian, Blackett Piers R, Miller Walter L

Abstract excerpt

CONTEXT: The cholesterol side-chain cleavage enzyme (P450scc), encoded by the CYP11A1 gene, converts cholesterol to pregnenolone to initiate steroidogenesis. Genetic defects in P450scc cause a rare autosomal recessive disorder that is clinically indistinguishable from congenital lipoid adrenal hyperplasia (lipoid CAH). Nonclassic lipoid CAH is a recently recognized disorder caused by mutations in the...

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Identifiers

PMID: 21159840
DOI: 10.1210/jc.2010-1828
PMCID: PMC3047228

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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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