Seminoma in a 46, XY patient with 17α-hydroxylase deficiency.

This is the third reported case of testicular tumor and the first of germ cell tumor in a 46, XY patient with 17α-hydroxylase deficiency. Given the rarity and the risk of gonadal malignancy associated with 17α-hydroxylase deficiency, the involvement of multidisciplinary specialists and prophylactic gonadectomy is considered crucial in its management.