Gonadoblastoma in a 15-Year-Old Female With 46, XY Swyer Syndrome

AbstractSwyer syndrome or 46, XY pure gonadal dysgenesis is a very uncommon sex development disorder. This sex development disorder gives the appearance of a female phenotype with non-functional streak gonads and normal development of the Müllerian system but with an XY chromosome configuration. Due to the presence of Y chromosomal components, there is a significantly increased risk of gonadoblastoma and dysgerminoma in Swyer syndrome patients. In the present case, a 15-year-old phenotypically female patient diagnosed with Swyer syndrome underwent a prophylactic bilateral gonadectomy. There were no masses identified by the imaging study and the tumor markers were normal prior to the procedure, but the pathology evaluation confirmed the presence of a gonadoblastoma in situ in the right streak gonad upon microscopic analysis because the tumor would otherwise have been malignant. The patient is currently following a regimen of hormone replacement therapy and tumor surveillance.