46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report

RATIONALE: Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon. PATIENT CONCERNS: We report a case of a 36-year-old phenotypical male with a chief complaint of an abdominal mass for 3 months. He reported normal erections and regular menses. Computerized tomography showed a large tumor measuring 15 × 10 cm in size, a uterus, and a cystic ovary. DIAGNOSIS: 46, XX ovotesticular DSD with seminoma. INTERVENTIONS: The patient was treated with neochemotherapy (etoposide and cisplatin), surgery, chemotherapy, and testosterone replacement. OUTCOMES: At the 13-month follow-up, the patient reported satisfactory erections, and no evidence of disease was found. CONCLUSION: Cases of 46,XX ovotesticular DSD with seminoma are uncommon. Our case reveals the importance of surgery combined with neochemotherapy, chemotherapy, and testosterone replacement in these patients to improve the prognosis.