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Article

[A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].

Zhonghua nei ke za zhi - 1 Jun 2008

Liang Jun, Qiao Jie, Chen Xia, Wu Qing-Qiang, Heng Hao, Zhang Tong, Zhao Jia-Jun, Song Huai-Dong

Abstract excerpt

OBJECTIVE: To investigate the molecular defects of CYP17A1 gene in a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test. METHODS: Clinical data and hormone profiles were collected from the members of the pedigree. CYP17A1 genotyping was performed in...

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Source

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PMID: 19040066

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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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