Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 16, 2021; 9(35): 11036-11042
Published online Dec 16, 2021. doi: 10.12998/wjcc.v9.i35.11036
Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
Ka-Na Wang, Qing-Qing Chen, Yi-Lin Zhu, Chun-Lin Wang
Ka-Na Wang, Qing-Qing Chen, Yi-Lin Zhu, Chun-Lin Wang, Department of Pediatrics, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China
Author contributions: Wang KN was responsible for the conception of the study, research design, data analyses and writing the manuscript; Chen QQ performed the experiment; Zhu YL helped to search literatures; Wang CL helped perform the analysis with constructive discussion.
Supported by the key Research and Development Program of Zhejiang Province, No. 2020C03121.
Informed consent statement: Written and informed consent was obtained from the parents of the proband for publication of this report.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest related to this manuscript.
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: Chun-Lin Wang, MD, MHSc, PhD, Chief Doctor, Department of Pediatrics, The First Affiliated Hospital of Zhejiang University School of Medicine, No. 1367 Wenyi West Road, Hangzhou 310000, Zhejiang Province, China. hzwangcl@zju.edu.cn
Received: July 1, 2021
Peer-review started: July 1, 2021
First decision: July 26, 2021
Revised: July 27, 2021
Accepted: October 27, 2021
Article in press: October 27, 2021
Published online: December 16, 2021
Processing time: 161 Days and 21 Hours
Core Tip

Core Tip: A hemizygous variant c.2678C>T (p.P893L) was found in the Ligand-binding domain of the AR gene in a Chinese family affected with complete androgen insensitivity syndrome (CAIS). Online prediction tools were used to predict the disease-causing potential of this variant. Structural analysis revealed that the amino acid substitution affected protein properties, and in vitro functional studies showed the nuclear translocation ability of the mutant protein to be impaired. CAIS in this family was concluded to be caused by the c.2678C>T variant, whose pathogenesis resulting in an androgen insensitivity syndrome phenotype may be related to decreased nuclear translocation.