Suspected Ovotesticular Disorders of Sexual Differentiation in a Phenotypic Male With Ambiguous Genitalia, Light Menstrual Flow, and Synchronous Bilateral Dysgerminoma: A Case Report From Ethiopia

TL;DR

A 14-year-old male with ambiguous genitalia and rare ovotesticular DSD developed cancer in both gonads, highlighting the need for early diagnosis and specialized care in low-resource areas.

Contribution

This case report highlights the rare coexistence of ovotesticular DSD and synchronous bilateral dysgerminoma in a male phenotype from Ethiopia.

Findings

The patient exhibited ambiguous genitalia, cyclic bleeding, and absent male secondary sexual characteristics.

Histopathology confirmed synchronous bilateral dysgerminoma, a rare occurrence in ovotesticular DSD.

The case emphasizes the need for multidisciplinary care and improved access to diagnostic tools in resource-limited settings.

Abstract

Background: Ovotesticular disorder of sexual differentiation (DSD) is one of the rarest congenital conditions affecting gonadal and sexual development, characterized by the coexistence of ovarian and testicular tissue within an individual. This condition often presents with ambiguous genitalia, atypical pubertal development, or unexpected menstrual activity. This case report details a 14-year-old phenotypic male with ambiguous genitalia, cyclic perineal bleeding, and synchronous bilateral dysgerminoma, underscoring the diagnostic complexities and management challenges encountered in resource-constrained settings.

Case Presentation: A 14-year-old individual assigned male at birth and raised as a boy presented with progressive abdominal distension, cyclic perineal bleeding, and absent male secondary sexual characteristics. Physical examination revealed ambiguous genitalia, a small phallic structure, a perineal opening with menstrual blood, and no palpable gonads. Hormonal analysis revealed elevated lactate dehydrogenase and gonadotropins, low testosterone levels, and increased estradiol. Imaging revealed an abdominopelvic mass highly suggestive of ovarian malignancy, and vaginal exploration confirmed Müllerian structures. Laparotomy revealed a 16-cm × 18-cm right adnexal mass, and histopathology confirmed dysgerminoma. The patient was lost to follow-up but returned 6 months later with a contralateral (left) adnexal mass, prompting oncologic referral.

Conclusion: Ovotesticular DSD with bilateral dysgerminoma is exceedingly rare and poses significant diagnostic and therapeutic challenges. Early diagnosis, multidisciplinary management, and timely oncologic intervention are crucial for optimizing patient outcomes, especially in resource-limited settings. This case underscores the critical need for heightened awareness, improved access to karyotyping, genetic and hormonal assessments, and long-term follow-up for individuals presenting with ambiguous genitalia and atypical pubertal development.

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