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

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.