| ISSN |
2307-8960 (online) |
| 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/ |
| Copyright |
© The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
|
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Endocrinology & Metabolism |
| Manuscript Type |
Case Report |
| Article Title |
17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Dai Zhang, Jian-Ran Sun, Jiang Xu, Yan Xing, Mao Zheng, Shan-Dong Ye and Jie Zhu |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Anhui Province Central Guided Local Science and Technology Development Funding Project |
2017070802D147 |
| Anhui Province Key Clinical Specialist Construction Fund |
|
|
| 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 |
| Key Words |
Cytochrome P450c17; 17-α-hydroxylase-17,20-lyase deficiency; Phenotype; Mutation; Case report |
| Core Tip |
17-α-hydroxylase deficiency (17OHD) is a rare type of congenital adrenal hyperplasia. The clinical manifestations of 17OHD are hyporeninic 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 17OHD, caused by p.Tyr329fs homozygous mutation, through genetic testing. These three cases suggest that the homozygous p.Tyr329fs mutation usually manifests as a combined deficiency and that the definite diagnosis mainly depends on genetic testing. |
| Publish Date |
2021-03-05 12:08 |
| Citation |
Zhang D, Sun JR, Xu J, Xing Y, Zheng M, Ye SD, Zhu J. 17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports. World J Clin Cases 2021; 9(8): 1923-1930 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i8/1923.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i8.1923 |
