A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review
Author:
Affiliation:
1. Department of Endocrinology and Metabolism, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, Jinhua, China
Funder
2021 Jinhua Municipal Central Hospital Young and Middle-aged Scientific Research Fund
Publisher
Informa UK Limited
Subject
Cardiology and Cardiovascular Medicine,General Medicine,Internal Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/08037051.2023.2195008
Reference30 articles.
1. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation
2. The Syndrome of 17,20 Lyase Deficiency
3. Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency
4. Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency
5. 17α-Hydroxylase/17,20-Lyase Deficiency: From Clinical Investigation to Molecular Definition*
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