Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 6, 2021; 9(10): 2259-2267
Published online Apr 6, 2021. doi: 10.12998/wjcc.v9.i10.2259
Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report
Mei-Nan He, Shan-Chao Zhao, Ji-Min Li, Lu-Lu Tong, Xin-Zhao Fan, Yao-Ming Xue, Xiao-Hong Lin, Ying Cao
Mei-Nan He, Ji-Min Li, Lu-Lu Tong, Xin-Zhao Fan, Yao-Ming Xue, Ying Cao, Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong Province, China
Shan-Chao Zhao, Department of Urology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong Province, China
Xiao-Hong Lin, Guangzhou KingMed Center for Clinical Laboratory Co., Ltd., Guangzhou 510005, Guangdong Province, China
Author contributions: He MN, Tong LL, and Li JM carried out the studies, participated in collecting the data, and drafted the manuscript; He MN, Cao Y, and Zhao SC performed the statistical analysis and participated in its design; Fan XZ, Xue YM, and Lin XH helped to draft the manuscript; all authors read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to report.
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: Ying Cao, MD, Doctor, Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, No. 1838 Guangzhou Avenue North, Baiyun District, Guangzhou 510515, Guangdong Province, China. nfcy123@126.com
Received: August 29, 2020
Peer-review started: August 29, 2020
First decision: December 28, 2020
Revised: January 10, 2021
Accepted: January 27, 2021
Article in press: January 27, 2021
Published online: April 6, 2021
Processing time: 212 Days and 19.4 Hours
Core Tip

Core Tip: This paper reports a 14-year-old girl who was diagnosed with non-classical congenital adrenal hyperplasia (NCAH) and turner syndrome (TS) with a positive SRY gene concurrently. The combination of these three factors increases the difficulty of diagnosis and treatment but provides insights into the understanding of TS. At the same time, in the diagnosis of TS, in addition to karyotype analysis, physical examination of virilization characteristics, 17-hydroxyprogesterone detection, and even cytogenetic analysis are of vital importance, which are helpful for clinicians to identify the diagnosis and treatment of the disease and avoid missed diagnosis and misdiagnosis. This report expands clinicians' understanding of TS and NCAH.