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Article

Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.

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

Tian Qinjie, Yao Fengxia, Zhang Yiwen, Tseng Hung, Lang Jinghe

Abstract excerpt

CONTEXT: Partial 17a-hydroxylase/17,20 lyase deficiency (17OHD) is a rare subtype of 17OHD caused by CYP17 gene mutations. OBJECTIVE: Five Chinese 46,XX patients and one family with partial 17OHD were genotyped. PATIENTS: The five patients derived from different families and one of them had another patient in family. The diagnosis of partial 17OHD was established through clinical and laboratory characteristics in...

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Identifiers

PMID: 21846181
DOI: 10.3109/09513590.2011.593665

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Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.PMID 21846181Read ↗

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