Swyer Syndrome: A Case Report

Swyer syndrome is a pure gonad dysgenesis associating with 46. XY karyotype, primary amenorrhea and presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The diagnosis is usually made at adolescence when the primary amenorrhea is investigated. A 23-year-old female presented with primary amenorrhea. On physical examination, she had female external genitalia. Laboratory analyses revealed serum follicle-stimulating hormone and luteinizing hormone levels compatible with hypergonodotropic hypogonadism. Pelvic ultrasonography and magnetic resonance imaging showed a hypoplastic uterus and absent ovaries. Chromosome analysis revealed 46. XY karyotype. Prophylactic bilateral gonadectomy was performed and histological examination showed pure gonadoblastome in the left ovary. In conclusion, the presence of Y chromosome in patients with 46. XY gonadal dysgenesis may increase the risk of gonadal tumors. A prophylactic bilateral salpingo-gonadenectomy should be advised to those patients.