Bilateral Gonadblastoma and Dysgerminoma in an 18-Year-Old Female Patient with 46xy, Sty Gene Mutation_ Crimson Publishers

Bilateral Gonadblastoma and Dysgerminoma in an 18-Year-Old Female Patient with 46xy, Sty Gene Mutation by Schmeink CE in Womens Health Journal


Background: The need for prophylactic gonadectomy in XY gonadal dysgenesis patients is well known because of the risk of malignancy. However, the timing of surgery is not prescribed and in case of an unexpected finding like a dysgerminoma the need for additional treatment is controversial.

Case: A 18-year-old adolescent with a 46XY disorder of sex development (DSD) and a SRY gene mutation underwent a laparoscopic gonadectomy. Pathology showed bilateral gonadoblastoma and dysgerminoma. Additional imaging showed no metastasis. After multidisciplinary consultation, expectant management was advised. In the first years of follow-up, there was no recurrence of disease.

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