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Article

Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jun 2012

Zhou Qi, Wu Chaoming, Wang Liang, Zheng Jingchen, Zheng Chao, Jin Jian, Qian Yanying, Ni Li

Abstract excerpt

AIMS: 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by impaired productions of gonadal steroids and cortisol, a subsequent elevation of adrenocorticotropic hormone, and accumulation of steroid precusors, which are shunted into the mineralocorticoid synthesis pathway. This disease is caused by mutations in the CYP17 gene. In this paper, we will describe the clinical features and genetic...

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Source

Identifiers

PMID: 22103881
DOI: 10.3109/09513590.2011.633648

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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