Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature

Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes, such as in pure or mixed gonadal dysgenesis and among females carrying Y chromosome material. However, it can be rarely present in normal women with 46, XX karyotype. Ovarian gonadoblastoma presenting with signs of contrasexual puberty in a young female child with normal 46, XX karyotype is an extremely rare clinical entity and seldom reported in the literature. We report a case of a nine-year-old girl child who presented with signs of virilization and contrasexual pubertal development. A detailed clinical evaluation along with supportive biochemical and radiological findings pointed to the presence of a virilizing ovarian tumor. The patient underwent right salpingo-oophorectomy, pelvic node dissection, and infracolic omentectomy. The excised tumor was confirmed to be gonadoblastoma which was overgrown by dysgerminoma on histopathological evaluation. The presence of associated malignant tumors (like dysgerminoma) should always be ruled out in cases of gonadoblastoma.