Gonadoblastoma in infancy: indications for early gonadectomy in 46XY gonadal dysgenesis

A 15-month-old phenotypic female was diagnosed as having 46XY gonadal dysgenesis following karyotyping for Turner-like features. Gonadectomy at the time of bilateral ureteral reimplantation for vesicoureteral reflux showed gonadoblastoma. This case, in which malignancy was already established at 15 months, indicates the need for early gonadectomy, which should be performed at the time of diagnosis.