Two Cases of Swyer Syndrome in Sisters / 대한산부인과학회잡지

ABSTRACT

46,XY pure gonadal dysgenesis, also known as Swyer syndrome, is a disorder of sexual differentiation. Its characteristics include a female phenotype without the somatic stigmata of Turner's syndrome, primary amenorrhea, sexual infatilism and bilateral streak gonads. Neoplasia occurs in 20-30% of individuals who have gonadal dysgenesis and Y chromosomal material. Gonadoblastoma and dysgerminoma are the most frequent tumor in phenotypic females with Y chromosome. One case was referred for palpable low abdominal mass. No other somatic abnormalities could be detected. Laparotomy revealed dysgerminoma of left ovary and mesenteric metastasis. In the course of postoperative adjuvant chemotherapy, her elder sister was diagnosed as Swyer syndrome. And karyotype of this patient was 46,XY, too. So right gonadectomy was performed thereafter. The other case visited for primary amenorrhea and delayed development of breast. Physical examination revealed no development of breast, no pubic and axillary hair. External genital organ was normal shaped. Peripheral blood karyotyping was 46,XY. Bilateral gonadectomy was performed and hormone replacement therapy was started. We report two cases of Swyer syndrome and review of literature.