Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 16, 2021; 9(8): 1923-1930
Published online Mar 16, 2021. doi: 10.12998/wjcc.v9.i8.1923
17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports
Dai Zhang, Jian-Ran Sun, Jiang Xu, Yan Xing, Mao Zheng, Shan-Dong Ye, Jie Zhu
Dai Zhang, Jian-Ran Sun, Jiang Xu, Mao Zheng, Shan-Dong Ye, Jie Zhu, Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, Anhui Province, China
Yan Xing, Department of Endocrinology, Endocrinology Laboratory of the First Affiliated Hospital of USTC, Hefei 230001, Anhui Province, China
Author contributions: Zhu J and Ye SD conceived and supervised the study; Xing Y, Zheng M, Xu J and Zhu J designed experiments; Zhang D and Xing Y performed experiments; Zhang D, Xu J and Sun JR analyzed data; Zhang D wrote the manuscript; Zhu J and Ye SD made manuscript revisions; all authors reviewed the results and approved the final version of the manuscript.
Supported by Anhui Province Central Guided Local Science and Technology Development Funding Project, No. 2017070802D147; and Anhui Province Key Clinical Specialist Construction Fund.
Informed consent statement: All patients provided informed consent for publication of the case.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jie Zhu, MD, Doctor, Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, No. 17 Lujiang Road, Hefei 230001, Anhui Province, China. jiezhuaph@gmail.com
Received: October 12, 2020
Peer-review started: October 12, 2020
First decision: December 30, 2020
Revised: January 13, 2021
Accepted: January 28, 2021
Article in press: January 28, 2021
Published online: March 16, 2021
Processing time: 144 Days and 7.5 Hours
Core Tip

Core Tip: 17-α-hydroxylase deficiency is a rare type of congenital adrenal hyperplasia. The clinical manifestations of 17-α-hydroxylase deficiency are hypo-reninemic hypertension, hypokalemia, male pseudohermaphroditism, female sexual infantilism and primary amenorrhea. The disease is caused by mutations in the gene encoding cytochrome P450c17 that lead to 17-α-hydroxylase/17,20 carbon chain lyase deficiency. The present study presents the data of three patients who were diagnosed with 17-α-hydroxylase deficiency that was caused by p.Tyr329fs homozygous mutation. These three cases suggest that the homozygous p.Tyr329fs mutation usually manifests as a combined deficiency and that the definite diagnosis depends on genetic testing.