Delayed Diagnosis of Swyer Syndrome with Mixed Germ Cell Tumour: "A Stitch in Time Saves Nine" Always Holds True

Swyer syndrome is a disorder of sexual development (DSD) where affected persons have XY chromosomal makeup but have female internal genitalia. We report a 25-year-old married woman who presented with incomplete staging for ovarian mass and primary amenorrhea. Tanner breast stage was 3. Both pubic and axillary hairs were absent. The cervix and uterus were atrophic. Karyotyping was suggestive of 46 XY (Swyer Syndrome) and due to advanced disease she underwent chemotherapy for mixed germ cell tumour followed by completion surgery which included removal of dysgenetic gonads. This case report highlights the importance of proper evaluation of girls presenting with primary amenorrhea which includes karyotyping. Timely identification of these cases would prevent gonadal cancer by performing bilateral gonadectomy at initial diagnosis.