Endocrine Abstracts (2017) 49 EP1111 | DOI: 10.1530/endoabs.49.EP1111

Natural history of the Swyer Syndrome

Katarzyna Doroszewska1, Tomasz Milewicz1, Marta Kialka1 & Sandra Mrozinska2

1Department of Gynecological Endocrinology UJ CM, Cracow, Poland; 2Department of Metabolic Diseases UJ CM, Cracow, Poland.

We present a case of a eighteen-year-old woman admitted to the Gynecological and Endocrinological Department because of primary amenorrhea. Physical examination showed excessive pubic hair and clitoral hypertrophy. Laboratory tests showed the increased level of foliculotropina (FSH) 90 mIU/ml (normal range 3.5–12.5 mIU/ml) and the estradiol level below 10 pmol/l (normal range 46–607 pmol/l). An ultrasound-imaging of the abdomen and pelvis showed the uterus of normal size and shape. Bands of connective tissues were present at the site of ovaries. Because of the clinical presentation a genetic test was done which revealed the XY karyotype. Based on the results the Swyer syndrome was diagnosed. A hormonal substitution therapy was introduced and the surgical removal of the streak gonads was planned because of the risk of malignancy. The patient did not give consent for the operation and did not report for the follow up visits. Three years later, the woman reported back to the Clinic because of acute pain in the lower back, dyspnoea and increasing abdominal circumference. The computer tomography of the minor pelvis showed the presence of lumpy mass in the pelvic cavity. The patient underwent an operation. Intraoperatively numerous metastasis were found in the abdomen and pelvis. Radical hysterectomy was performed. Histopathological examination of the streak gonads showed dysgerminoma and gonadoblastoma on the left gonad and dysgerminoma on the right one. After operation the patient was given 4 cycles of chemotherapy. This case presents the natural history of the Swyer syndrome.

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