Germ cell neoplasms in three intersex patients with 46,XY karyotype

This report presents 3 cases with gonadoblastoma mixed with other germ cell tumours in intersex patients, all with a 46,XY karyotype. One 11-year-old patient was a true hermaphrodite, the others, aged 13 and 18, respectively, had both gonadal dysgenesis. Different clinical courses have been noted. Two patients had gonadoblastoma combined with dysgerminoma; in one of them a teratoma was also found. In the third case gonadoblastoma was transformed into teratocarcinoma. The malignant degeneration was more serious in the 2 pubertal patients. Thus, we recommend early and prophylactic gonadectomy.