# Gonadoblastoma in a patient with 45,X/46XY mosaicism

## TL;DR

A child with a rare genetic condition underwent surgery to remove their gonads to prevent future cancer.

## Contribution

This case highlights the importance of early intervention in mosaic Turner syndrome for cancer prevention.

## Key findings

- The patient had a 45,X/46,XY mosaicism karyotype and underwent prophylactic bilateral gonadectomy.
- Early surgical removal is recommended to prevent malignant germ cell tumors in such cases.

## Abstract

45,X/46,XY mosaicism is a sex development disorder with an estimated incidence of less than 1 in 15,000 live births. Various studies have shown there is an increased risk of germ cell tumours forming in Mosaic Turner syndrome. This includes gonadoblastoma, a clinically benign mixed germ-stromal cell tumour. However, this can later develop into one or several malignant germ cell neoplasms, for which early prophylactic gonadectomy is often recommended in patients with 45,X/46,XY mosaicism. The study presents the case of an 11-year-old patient diagnosed with a Mosaic Turner syndrome karyotype, who underwent prophylactic bilateral gonadectomy.