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Article

Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.

The Journal of clinical endocrinology and metabolism - 17 May 2022

Xu Yue, Jiang Shutian, Yan Zheng, Niu Yao, Du Wenhua, Liu Bingli, Han Bing, Liu Xuemeng, Zhao Shuangxia, Song Huaidong, Kuang Yanping, Qiao Jie

Abstract excerpt

CONTEXT: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by a human CYP17A1 gene mutation and has the classical phenotype of hypertension, hypokalemia, sexual infantilism, and primary amenorrhea in females (46,XX) and disorders of sexual development in males (46,XY). To date, few cases of 17OHD have been reported, and the likelihood of pregnancy has rarely been explored. OBJECTIVE: To study the clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35043964
DOI: 10.1210/clinem/dgac029

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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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