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Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Feb 2021

Xia Junke, Liu Furong, Wu Jing, Xia Yanjie, Zhao Zhenhua, Zhao Yongjiang, Ren Huayan, Kong Xiangdong

Abstract excerpt

OBJECTIVE: 17 α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive hereditary disease that can be attributed to cytochrome P450 17 α-hydroxylase deficiency caused by CYP17A1 gene mutations. METHODS: A large cohort of 10 Chinese Han patients with 17-OHD from 2012 to 2020 were enrolled. The clinical and biochemical features were investigated, and genetic mutations of CYP17A1 were analyzed by...

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PMID: 33547012
DOI: 10.4158/EP-2020-0478

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