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[Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2020

Zeng Yu, Mei Libin, Liang Lei, He Xuemei, Gao Haijie, Lin Shaobin, Huang Lingling, Li Ping

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a patient with 17-hydroxylase/17,20-lyase deficiency. METHODS: The patient was infertile without contraception. Laboratory examination showed her chromosomal karyotype to be 46, XX. DNA sequencing was performed to detect variants of CYP17A1 gene in the patient and her family members. RESULTS: Sanger sequencing revealed that the patient has carried...

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PMID: 32820515
DOI: 10.3760/cma.j.cn511374-20191014-00524

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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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