Diagnosis and surgical decision-making of a 46, XX ovotesticular disorders of sex development patient: a case report

Front Surg. 2024 Dec 11:11:1502340. doi: 10.3389/fsurg.2024.1502340. eCollection 2024.

Abstract

Background: Ovotesticular disorder of sex development is a rare form of disorder of sex development that manifests as ovotestis in individuals. The precise diagnosis and the choice of surgical procedures are still in conflict condition due to the rarity of the disease, diverse clinical presentations, and the lack of evidence-based medical studies on postoperative outcomes.

Case presentation: We present a 46, XX ovotesticular disorder of sex development case, aged 19, with Prader stage IV virilization who underwent feminizing genitoplasty surgery. Our surgical strategy prioritized the patient's genitourinary function restoration and cosmetic reconstruction achieved satisfactory results. We attribute the success of the treatment to the systematic diagnostic process and individualized surgical planning.

Conclusion: The purpose of this article is to provide an evaluation protocol for the ovotesticular disorder of sex development, improving the diagnostic rate and providing some fresh ideas for surgical management.

Keywords: diagnostic process; disorder of sex development; external genital abnormalities; feminizing genitoplasty; ovotesticular disorder of sex development.

Publication types

  • Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. The funding resources are listed below: The Key Projects of Science and Technology Department of Sichuan Province (2024YFFK0063). The National Natural Science Foundation of China (No. 81871574). Scientific Research Projects of Sichuan Health Commission (No. 19PJ097). 135 project for disciplines of excellence, West China Hospital Sichuan University (No. ZYPY20003 and No. ZYPY20004). Sichuan Natural Science Foundation (No. 2022NSFSC0717). Project of Chengdu Medical Research, No: 2023009. Health Commission of Sichuan Province Medical Science and Technology Program (No: 24QNMP029). Key research and development project of Sichuan (No: 2024YFFK0054).