Atypical Presentation of Swyer Syndrome

Abstract

Background: Swyer syndrome is a rare type of disorder of sex development and typically presents with delayed puberty and primary amenorrhea. We describe an unusual presentation of this condition.

Case: A 17-year-old female patient with typical thelarche and adrenarche presented with primary amenorrhea. Pelvic ultrasound showed normally developed uterus and bilateral ovoid hypoechoic structures suggestive of gonads. Laboratory investigations revealed highly elevated gonadotrophins with estradiol level within a range typical for a female of reproductive age and chromosome analysis showed a 46,XY karyotype. Histopathological examination of the gonadectomy specimens revealed gonadoblastoma and dysgerminoma with no functional ovarian or testicular tissue.

Summary and conclusion: This report reminds us the possibility of diagnosis of Swyer syndrome in the presence of normal pubertal development and normal sex steroid levels considered to be produced by gonadoblastoma.

Keywords: Amenorrhea; Gonadoblastoma; Puberty; Swyer syndrome.