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.
Key Words
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Article info
Publication history
Published online: July 26, 2019
Footnotes
The authors indicate no conflicts of interest.
Identification
Copyright
© 2019 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc.
