THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY

Disorders of sex development with Y chromosome material has been associated with a high risk for developing germ cell tumors such as gonadoblastoma or dysgerminoma. The aim of the study was to investigate the risk of germ cell tumors in patients with XY gonadal dysgenesis. Material and methods. In the study included 11 patients with XY gonadal dysgenesis: 4 with complete gonadal dysgenesis and 4 with partial gonadal dysgenesis. Results. Pathologic examination revealed gonadoblastoma and dysgerminoma with gonadoblastoma in 2 of 9 (22%) patients (who had gonadectomy), including 2 of 3 patients (66 %) with complete gonadal dysgenesis. In our series of patients with gonadal dysgenesis 46,XY the risk of germ cell tumors was high, especially in patients with complete gonadal dysgenesis. Considering this results, early gonadectomy is strongly recommended in females patients. The patients with partial dysgenesis with scrotal gonads being reared as males need monitoring.