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

ABSTRACT

Introduction: 17α-Hydroxylase deficiency is a very rare disease reported to be associated with a risk of gonadal malignancy. We herein report a rare case of seminoma in a 46, XY patient with 17α-hydroxylase deficiency. Case presentation A 52-year-old woman presented with a 9-cm pelvic tumor. At age 14, she had been identified as having the XY karyotype and 17α-hydroxylase deficiency. However, she was not informed and did not consult the urology department. Laparoscopic gonadectomy was performed at the latest consultation, and seminoma was diagnosed. Conclusion: 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.