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Article

Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.

The Journal of clinical endocrinology and metabolism - 1 Feb 2013

Tee Meng Kian, Abramsohn Michal, Loewenthal Neta, Harris Mark, Siwach Sudeep, Kaplinsky Ana, Markus Barak, Birk Ohad, Sheffield Val C, Parvari Ruti, Pavari Ruti, Hershkovitz Eli, Miller Walter L

Abstract excerpt

CONTEXT: The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, converts cholesterol to pregnenolone to initiate steroidogenesis. P450scc deficiency can disrupt adrenal and gonadal steroidogenesis, resembling congenital lipoid adrenal hyperplasia clinically and hormonally; only 12 such patients have been reported previously. OBJECTIVE: We sought to expand clinical and genetic experience with...

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Identifiers

PMID: 23337730
DOI: 10.1210/jc.2012-2828
PMCID: PMC3565115

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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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