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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2022; 10(11): 3553-3560
Published online Apr 16, 2022. doi: 10.12998/wjcc.v10.i11.3553
Published online Apr 16, 2022. doi: 10.12998/wjcc.v10.i11.3553
Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report
Yu Gong, Fang Qin, Wen-Jia Li, Le-Yu Li, Ping He, Xing-Jian Zhou, Department of Endocrine and Metabolism, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang 441000, Hubei Province, China
Author contributions: Gong Y and Qin F treated the patient; Zhou XJ drafted the manuscript; Li WJ and Li LY participated in the analysis and the interpretation of the data; He P critically revised the manuscript; all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xing-Jian Zhou, MD, Chief Doctor, Department of Endocrine and Metabolism, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, No. 15 Jiefang Road, Fancheng District, Xiangyang 441000, Hubei Province, China. hazck147@163.com
Received: November 5, 2021
Peer-review started: November 5, 2021
First decision: December 27, 2021
Revised: January 29, 2022
Accepted: February 27, 2022
Article in press: February 27, 2022
Published online: April 16, 2022
Peer-review started: November 5, 2021
First decision: December 27, 2021
Revised: January 29, 2022
Accepted: February 27, 2022
Article in press: February 27, 2022
Published online: April 16, 2022
Core Tip
Core Tip: 17α-Hydroxylase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia, characterized by hypertension, hypokalemia, and gonadal dysplasia. We report a case of 17-OHD admitted to our hospital due to limb weakness. The patient’s blood pressure was difficult to control with various antihypertensive drugs. Her gonadal development was found to be abnormal, and chromosome analysis demonstrated karyotype 46,XY. The diagnosis was confirmed by the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) test. The clinical manifestations of 17-OHD are complex. Hormone determination, imaging examination, chromosome determination and CYP17A1 gene detection are helpful for early diagnosis.