Gonadal tumors in disorders of sexual differentiation

Abstract

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.