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A 23-year-old patient with primary amenorrhea and female external phenotype presented to the outpatient department of Mercy Teaching Hospital, Peshawar Medical College in Peshawar. On clinical examination, she was tall with under developed secondary sexual characteristics. Laboratory/ radiological investigations revealed Swyer syndrome. Karyotyping showed XY chromosomal pattern. On imaging, a left huge adnexal mass 16x12cm with multiple solid and cystic areas, small infantile uterus right streak ovary was detected. Alkaline phosphatase, LH and FSH levels were raised. Laparotomy followed by left salpingoophrectomy was done. Intra-operatively there was a small infantile uterus and right streak ovary and right normal looking fallopian tube with no ascites, visceromegaly and enlarged abdominal lymph nodes. Histopathology revealed dysgerminoma.
Swyer syndrome also known as pure gonadal dysgenesis is a rare form of genetic disorder. Clinically the patient has female external phenotype and XY chromosomal pattern. Early investigations and radiological imaging help in the proper diagnosis. Prophylactic gonadectomy reduces the risk of developing germ cell tumors.
Swyer syndrome, Germ cell tumors, Pure gonadal dysgenesis.
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