ORIGINAL RESEARCH article

Front. Endocrinol.

Sec. Pediatric Endocrinology

Volume 16 - 2025 | doi: 10.3389/fendo.2025.1571467

This article is part of the Research TopicDisorders of Sex Development In Children: Advancing Multidisciplinary Approaches For Complex Diagnosis And ManagementView all 5 articles

Retrospective analysis of children with 46, XX testicular/ovotesticular DSD, a 10-year single-center experience

Provisionally accepted
Yan GongYan Gong1Xiao qin YinXiao qin Yin1Jing XuJing Xu1Yan LiYan Li1Qing xu LiuQing xu Liu1Sha sha ZhouSha sha Zhou1Fei WangFei Wang1Yi qing LyuYi qing Lyu2Sheng GuoSheng Guo1Wen yan HuangWen yan Huang3*Pin LiPin Li1*
  • 1Department of Endocrinology, Shanghai Children’s Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China
  • 2Department of Urology, Shanghai Children’s Hospital, School of medicine, Shanghai Jiao Tong University, shanghai, China
  • 3Department of Nephrology, Shanghai Children’s Hospital, School of medicine, Shanghai Jiao Tong University, shanghai, China

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Purpose:46, XX testicular/ovotesticular differences/disorders of sexual development(TDSD/OTDSD) are rare in childhood and exhibit marked distinctions compared to those in adulthood.This study aimed to summarize the clinical characteristics and outcomes of 46,XX TDSD/OTDSD in childhood.The sexual development characteristics,hormone profiles,chromosomal analysis,FISH SRY analysis(peripheral blood and tissues),molecular genetic etiology,gonadal pathology,risk of gonadal tumours,and assigned gender of fifty-two patients were collected and analyzed.The median age at initial presentation was 18 months,External Masculinization Score(EMS) within the range of 3

Keywords: 46, XX testicular/ovotesticular DSD, Gonadal pathology, SRY gene, Genetics, gonads tumor, Gender Assignment

Received: 05 Feb 2025; Accepted: 01 May 2025.

Copyright: © 2025 Gong, Yin, Xu, Li, Liu, Zhou, Wang, Lyu, Guo, Huang and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence:
Wen yan Huang, Department of Nephrology, Shanghai Children’s Hospital, School of medicine, Shanghai Jiao Tong University, shanghai, China
Pin Li, Department of Endocrinology, Shanghai Children’s Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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