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Abstract

Abstract

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.

Conclusion: This case report of a patient with bilateral gonadoblastoma and dysgerminoma contributes to the limited data available about this type of germ cell tumor and the required treatment and follow-up. A conservative approach was chosen, as completion surgery and adjuvant chemotherapy are controversial and recurrence of disease can be well treated with chemotherapy.

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