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Article

An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.

Frontiers in endocrinology - 1 Jan 2022

Liao Qian, Shen Rufei, Liao Mingyu, Ran Chenxi, Zhou Ling, Zhang Yuling, Peng Guiliang, Sun Zheng, Zheng Hongting, Long Min

Abstract excerpt

Background: Combined 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a very rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. Almost 100 different mutations of the CYP17A1 gene have been reported, including p.R96Q mutation, but no case of p.R96Q mutation has been described in Asian populations. Case presentation: We describe a 22-year-old female patient of 46,XY...

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Identifiers

PMID: 36339422
DOI: 10.3389/fendo.2022.989447
PMCID: PMC9627194

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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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