Swyer syndrome (46XY pure gonadal dysgenesis) presenting with dysgerminoma

Abstract

Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis (Swyer syndrome), mixed gonadal dysgenesis, and partial gonadal dysgenesis. Dysgerminoma usually develops in phenotypic females with 46XY pure gonadal dysgenesis. This patient presented with an abdominopelvic mass. Laparotomy was done. 46XY karyotype was detected by lymphocyte culture. The patient underwent gonadectomy, and histopathological results were streak ovaries with dysgerminoma. Five percent of dysgerminomas are discovered in phenotypic female and 46XY karyotype; thus, in an adolescent with dysgerminomas and amenorrhea, karyotyping should be done.

Keywords

• dysgerminoma
• gonadal dysgenesis
• swyer syndrome