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4/8/2022 12:06:56 PM | Browse: 290 | Download: 622
Publication Name World Journal of Clinical Cases
Manuscript ID 72925
Country China
Received
2021-11-05 13:40
Peer-Review Started
2021-11-05 13:41
To Make the First Decision
Return for Revision
2021-12-27 08:03
Revised
2022-01-29 12:30
Second Decision
2022-02-24 06:10
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2022-02-27 19:11
Articles in Press
2022-02-27 19:11
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2022-03-29 09:19
Publish the Manuscript Online
2022-04-08 12:06
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: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
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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 Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report
Manuscript Source Unsolicited Manuscript
All Author List Yu Gong, Fang Qin, Wen-Jia Li, Le-Yu Li, Ping He and Xing-Jian Zhou
ORCID
Author(s) ORCID Number
Yu Gong http://orcid.org/0000-0001-7246-0637
Fang Qin http://orcid.org/0000-0003-1173-2592
Wen-Jia Li http://orcid.org/0000-0001-9609-968X
Le-Yu Li http://orcid.org/0000-0002-4500-932X
Ping He http://orcid.org/0000-0002-8060-6840
Xing-Jian Zhou http://orcid.org/0000-0001-9432-111X
Funding Agency and Grant Number
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
Key Words Congenital adrenal cortex hyperplasia; Cytochrome P450 family 17 subfamily A member 1; 17α-Hydroxylase deficiency; Pseudohermaphroditism; Case report
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.
Publish Date 2022-04-08 12:06
Citation Gong Y, Qin F, Li WJ, Li LY, He P, Zhou XJ. Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report. World J Clin Cases 2022; 10(11): 3553-3560
URL https://www.wjgnet.com/2307-8960/full/v10/i11/3553.htm
DOI https://dx.doi.org/10.12998/wjcc.v10.i11.3553
Full Article (PDF) WJCC-10-3553.pdf
Full Article (Word) WJCC-10-3553.docx
Manuscript File 72925_Auto_Edited.docx
Answering Reviewers 72925-Answering reviewers.pdf
Audio Core Tip 72925-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 72925-Conflict-of-interest statement.pdf
Copyright License Agreement 72925-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 72925-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 72925-Language certificate.pdf
Peer-review Report 72925-Peer-review(s).pdf
Scientific Misconduct Check 72925-Bing-Gao CC-2.png
Scientific Editor Work List 72925-Scientific editor work list.pdf
CrossCheck Report 72925-CrossCheck report.pdf