Atypical Swyer Syndrome Presenting with Spontaneous Breast Development and Secondary Amenorrhea

Abstract

46, XY pure gonadal dysgenesis (Swyer syndrome) is usually presented as sexual infantilism with delayed puberty and primary amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A 32-year-old woman complained of secondary amenorrhea lasting 1 year. Her menarche occurred at the age of 15. On physical examination, her external genitals were completely feminine. Breast development and pubic hair were compatible with Tanner stage V. Pelvic ultrasound showed a small-sized uterus and gonads. Laboratory investigations revealed follicle-stimulating hormone (FSH) 75.86 mIU/mL, estradiol 28.67 pg/mL, testosterone 0.27 ng/mL, dehydroepiandrosterone sulfate (DHEAS) 260.55 ug/dL and anti-Müllerian hormone (AMH) < 0.02 ng/mL. Chromosomal analysis indicated a 46, XY karyotype. She underwent laparoscopic gonadectomy, and pathology revealed dysgenetic gonads without germ cell tumors. Only a few cases of Swyer syndrome, spontaneous breast development or spontaneous vaginal bleeding related with germ cell tumor have been reported in the literature. To my knowledge, this is the first report of Swyer syndrome with unexplained spontaneous breast development and menstruation, despite the absence of hormone-producing gonadal neoplasm.