Ovotesticular Disorders of sexual development (DSD): A rare case of peritoneal carcinomatosis in an elderly DSD male patient

Anastasia Navitski; Sakshi Sehgal; Kalyani Ballur; Lawrence C Layman; Robert V Higgins

doi:10.1016/j.gore.2024.101515

Ovotesticular Disorders of sexual development (DSD): A rare case of peritoneal carcinomatosis in an elderly DSD male patient

Gynecol Oncol Rep. 2024 Sep 24:56:101515. doi: 10.1016/j.gore.2024.101515. eCollection 2024 Dec.

Authors

Anastasia Navitski¹, Sakshi Sehgal², Kalyani Ballur², Lawrence C Layman³, Robert V Higgins⁴

Affiliations

¹ Department of Obstetrics and Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, United States.
² Medical College of Georgia, Augusta, GA, United States.
³ Division of Reproductive Endocrinology, Infertility, & Genetics, Department of Neuroscience & Regenerative Medicine, Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, United States.
⁴ Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Georgia at Augusta University, 1120 15th Street, Augusta, GA 30912, USA.

Abstract

Disorders of sexual development (DSDs) represent a spectrum of conditions characterized by atypical gonadal and/or genital development. The incidence is 1 in 5,000 live births. Patients with DSD may be at increased risk for developing gonadal and reproductive tract tumors. This report summarizes the current knowledge on the risks of gonadal tumors in patients with DSD. Specifically, we focus on ovotesticular DSD (OT-DSD), which accounts for 5% of DSD cases and is defined by the presence of both ovarian and testicular tissues in the same individual. We present a rare case of a phenotypically male XY patient with OT-DSD who was diagnosed with aggressive peritoneal cancer at the age of 71.

Keywords: Disorders of sexual development; Gonadal cancer risk; Ovatestes.

Publication types

Case Reports