Gonadal tumors in disorders of sexual differentiation.

OBJECTIVE: To study the prevalence and distribution of gonadal tumors in patients with disorders of sexual differentiation.

METHODS: Retrospective review of pathologic materials and clinical data on all patients diagnosed with mixed gonadal dysgenesis, pure gonadal dysgenesis, androgen insensitivity, and true hermaphroditism between 1982 and 1990.

RESULTS: Twenty-one patients were identified and all underwent bilateral gonadectomy at the time of diagnosis. Nine of 21 patients had a gonadal tumor for a prevalence of 44 percent. Those at greatest risk for tumor were patients with mixed gonadal dysgenesis (6 of 11 patients) and pure gonadal dysgenesis (2 of 3 patients). There were four gonadoblastomas, two dysgerminomas, and one each of teratocarcinoma, seminoma, cystadenofibroma, and juvenile granulosa cell tumor.

CONCLUSIONS: The high prevalence of gonadal tumors in children with mixed and pure gonadal dysgenesis warrants consideration of early, bilateral, prophylactic gonadectomy once the diagnosis is established with certainty.