We present a 27 year old true hermaphrodite, born with ambiguous genitalia; diagnosed to have ovotesticular disorder of sexual development (OT-DSD), 46,XY/46,XX karyotype as a young adult. He presented with a 2 month history of abdominal mass accompanied by abdominal pain and narrowed stools. Work-up was suspicious for germ cell tumor hence he underwent exploratory laparotomy, total abdominal hysterectomy, bilateral salphingo-oophorectomy, bilateral lymph node dissection. Histopathology revealed left ovarian mixed germ cell tumor: yolk sac tumor (60%) and immature teratoma WHO grade 2 (40%); and right testicular gonadoblastoma (40%) with seminoma (60%). Adjuvant treatment with bleomycin, etoposide, cisplatin for 2 cycles were administered and serial monitoring showed decreasing levels of serum beta human chorionic gonadotropin and alpha fetoprotein; however new cervical and retroperitoneal masses developed. Patient refused surgery hence second line chemotherapy with paclitaxel, ifosfamide, cisplatin were started and he tolerated 3 cycles. Due to acute kidney injury and new onset of neurologic symptoms despite further decrease in serum tumor markers, patient refused further work-up and treatment. Presently, he is on best supportive care.
Ovotesticular disorder of sexual development is the rarest disorder of sexual differentiation. It requires the presence of follicle containing ovarian tissue and testicular tissue in an individual. Dysgenetic gonads may increase risk for malignant transformation in 3-5% of cases. We discuss the genetics, gender assignment, pathophysiology, diagnostics, therapeutics and prognosis of such patients. A multi-disciplinary approach is emphasized to maximize potential of these individuals to develop into normal functioning social adults.
Keywords: 46,XY/46,XX, disorders of sex development, ovotestes, germ cell tumors