Familial Swyer Syndrome; Complete Pure Gonadal Dysgenesis in Two Sisters, Manifested as Two Different Clinics and Associated with 46 XY-Karyotype

Index case - a 19-year-old female patient was admitted with the main complaint of unbearable abdominal pain and additionally having a history of primary amenorrhea. The physical examination and hormonal profile demonstrated hyper-gonadotropic hypogonadism and elevated serum tumor markers. The radiological imaging revealed a massive pelvic mass and hypoplastic uterus. Histopathology of the pelvic mass resulted in a malignant mixt germ cell tumor International Federation of Gynaecology and Obstetrics Stage IIIA. After tumor- free debulking surgery, she was referred to a medical oncology unit where four cycles of chemotherapy were applied with bleomycin, etoposide, and cisplatin. The family history unearths the elder sister at age 20 had similar aspects such as primary amenorrhea and the same physical semblance as her sister. Chromosome karyotype analysis of the 2 sisters revealed 46, XY which led to our diagnosis of Swyer syndrome. The family has been given counseling about their situation and advised for other siblings to be evaluated.