Mixed gonadal dysgenesis with gonadoblastoma in a female with Y chromosome: case report

A young female with primary amenorrhea and male karyotype (46/XY) is reported. Physical examination and clinical investigation of the patient suggested mixed gonadal dysgenesis (MGD). After gonadectomy, a tumor was found on the left side and histologically diagnosed gonadoblastoma. Postoperative decreased level of testosterone and estradiol reflected the activities of the tumor.