Leng XF, Lei K, Li Y, Tian F, Yao Q, Zheng QM, Chen ZH. Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports. World J Clin Cases 2020; 8(22): 5737-5743 [PMID: 33344568 DOI: 10.12998/wjcc.v8.i22.5737]
Corresponding Author of This Article
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
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
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 Processing time: 111 Days and 8.1 Hours
Abstract
BACKGROUND
Turner syndrome (TS) has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma.
CASE SUMMARY
In this case report, we report two cases of TS with different karyotypes and gonadal dysgenesis. Patient 1 had obvious virilization, and was positive for the SRY gene, but her karyotype in peripheral blood lymphocytes was 45X. Patient 2 had a mosaic karyotype, 45X/46X, dic (Y:Y) (p11.3:p11.2), and the proportion of Y-bearing cells was 50% in peripheral blood lymphocytes, but the patient had normal female external genitalia and streaky gonads, with no genital virilism. 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.
CONCLUSION
In TS patients with virilization, it is necessary to test at least two to three tissues to search for cryptic Y material.
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.
