Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2020; 8(22): 5737-5743
Published online Nov 26, 2020. doi: 10.12998/wjcc.v8.i22.5737
Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports
Xue-Fei Leng, Ke Lei, Yi Li, Fei Tian, Qin Yao, Qing-Mei Zheng, Zhi-Hong Chen
Xue-Fei Leng, Fei Tian, Zhi-Hong Chen, Department of Pediatric Endocrinology, Affiliated Hospital of Medical College Qingdao University, Qingdao 266001, Shandong Province, China
Ke Lei, Department of Laboratory Medicine, Affiliated Hospital of Medical College Qingdao University, Qingdao 266001, Shandong Province, China
Yi Li, Department of Gastrointestinal Surgery, Affiliated Hospital of Medical College Qingdao University, Qingdao 266001, Shandong Province, China
Qin Yao, Qing-Mei Zheng, Department of Gynecology, Affiliated Hospital of Medical College Qingdao University, Qingdao 266001, Shandong Province, China
Author contributions: Each author has participated sufficiently in the research to take public responsibility for appropriate portions of the content; Chen ZH as the corresponding author, conceptualized and designed the study, reviewed and revised the manuscript, and will ensure that questions related to the accuracy or integrity of any part of this research will be appropriately investigated and resolved; Leng XF made substantial contributions to the acquisition of data, conducted the initial analyses, and drafted the initial manuscript; Lei K helped to analyse the data, provided technical assistance, and critically revised the manuscript for important intellectual content; Li Y and Tian F helped to collect data, coordinated and supervised the data collection, and critically reviewed the manuscript for important intellectual content; Yao Q and Zheng QM provided data relating to surgeries and helped analyse the data with regard to surgeries and histopathology; all authors read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the patient's parent/guardian for publication of this case report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: Zhi-Hong Chen, MD, Chief Doctor, Department of Pediatric Endocrinology, Affiliated Hospital of Medical College Qingdao University, No. 16 Jiangsu Road, Qingdao 266001, Shandong Province, China. qyczh123@163.com
Received: August 6, 2020
Peer-review started: August 6, 2020
First decision: August 21, 2020
Revised: September 4, 2020
Accepted: September 18, 2020
Article in press: September 18, 2020
Published online: November 26, 2020
Core Tip

Core Tip: In this article, we report two cases of Turner syndrome (TS) with different karyotypes and gonadal dysgenesis. The results show the importance of testing at least two to three tissues to search for cryptic Y material in TS patients with virilization. Polymerase chain reaction and fluorescence in situ hybridization analyses can be used for enhanced screening of Y sequences in TS patients. Different tissues in the same TS individual may exhibit different ratios of mosaicism. The gonadal determination and differentiation of mosaic TS are primarily dependent on the predominant cell line in the gonads.