# Seminoma in a 46, XY patient with 17α‐hydroxylase deficiency

## TL;DR

A rare case of seminoma in a 46, XY patient with 17α-hydroxylase deficiency highlights the need for early intervention and multidisciplinary care.

## Contribution

This is the first reported case of a germ cell tumor in a 46, XY patient with 17α-hydroxylase deficiency.

## Key findings

- A 52-year-old woman with 17α-hydroxylase deficiency was diagnosed with seminoma.
- This case is the first of a germ cell tumor in a 46, XY patient with this deficiency.
- Multidisciplinary care and prophylactic gonadectomy are recommended for managing this condition.

## Abstract

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.

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.

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.