Bilateral gonadoblastoma in a 9-month-old infant with 46,XY gonadal dysgenesis

A 9-month-old infant with hypertrophic clitoris and separated urethral and vaginal opening was diagnosed as having 46,XY incomplete "pure gonadal dysgenesis". Examination of both gonads revealed gonadoblastoma and bilateral salpingo-gonadectomy and partial hysterectomy were performed. Patient is raised as a girl, and clitoroplasty will be done in next several months. The fact that gonadal neoplasia in our patient was found already at the age of 9 months, confirms the need for gonadectomy at the time of diagnosis in the patients with 46,XY gonadal dysgenesis.