Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature

BMC Womens Health. 2023 Oct 24;23(1):549. doi: 10.1186/s12905-023-02698-1.

Abstract

Introduction: Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male and female structures. We report a case of ovotestis diagnosed in an adolescent, with a review of the literature.

Case report: A 15-year-old patient presented with a right scrotal swelling associated with gynecomastia. Histology showed a juxtaposition of ovarian stroma with ovarian follicle and seminiferous tubules. Karyotype revealed a male subject (XY). We have therefore retained the diagnosis of ovotesticular disorders of sex development.

Conclusion: Ovotestis is a rare finding, heterogeneous in its genetic etiology and clinical presentation. While many patients are diagnosed during infancy or childhood, we presented a case diagnosed in a 15-year-old adolescent.

Keywords: Adolescent; Disorders of Sex Development (DSD); Histology; Karyotype; Ovotestis.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Karyotype
  • Male
  • Ovary / pathology
  • Ovotesticular Disorders of Sex Development* / complications
  • Ovotesticular Disorders of Sex Development* / diagnosis
  • Ovotesticular Disorders of Sex Development* / genetics