Publication Name	World Journal of Clinical Cases
Manuscript ID	60020
Country	China

Received	2020-10-12 04:39
Peer-Review Started	2020-10-12 04:40
First Decision by Editorial Office Director	2020-12-30 21:26
Return for Revision	2020-12-30 21:26
Revised	2021-01-13 05:00
Publication Fee Transferred
Second Decision by Editor	2021-01-28 12:50
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2021-01-28 16:14
Articles in Press	2021-01-28 16:14
Edit the Manuscript by Language Editor	2021-02-04 03:57
Typeset the Manuscript	2021-03-04 01:13
Publish the Manuscript Online	2021-03-05 12:08

ISSN	2307-8960 (online)
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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	Author(s) ORCID Number Dai Zhang http://orcid.org/0000-0002-0233-8502 Jian-Ran Sun http://orcid.org/0000-0001-6201-0464 Jiang Xu http://orcid.org/0000-0002-8279-1605 Yan Xing http://orcid.org/0000-0002-3925-0539 Mao Zheng http://orcid.org/0000-0003-2580-8949 Shan-Dong Ye http://orcid.org/0000-0002-0629-1013 Jie Zhu http://orcid.org/0000-0002-4347-1254
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, 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

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