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Article

17α‑hydroxylase/17,20‑lyase deficiency in congenital adrenal hyperplasia: A case report.

Molecular medicine reports - 1 Jan 2017

Xu Simiao, Hu Shuhong, Yu Xuefeng, Zhang Muxun, Yang Yan

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α‑hydroxylase/17,20‑lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorticotropic hormone...

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Identifiers

PMID: 27959413
DOI: 10.3892/mmr.2016.6029
PMCID: PMC5355729

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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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