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.
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.
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- Swyer syndrome.Curr Opin Endocrinol Diabetes Obes. 2014; 21: 504
- Swyer syndrome: presentation and outcomes.BJOG. 2008; 115: 737
- Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers.Endocr Rev. 2006; 27: 468
- A case of gonadal dysgenesis, breast development, graves’ disease, and low bone mass.Endocr Pract. 2003; 9: 220
- Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome.J Pediatr Adolesc Gynecol. 2002; 15: 145
- 46,XY gonadal dysgenesis (Swyer syndrome) with breast development and secondary amenorrhea.Gynecol Obstet Invest. 2008; 66: 214
- An unusual presentation of 46,XY pure gonadal dysgenesis: spontaneous breast development and menstruation.J Clin Res Pediatr Endocrinol. 2015; 7: 159
- Peripheral precocious puberty: 46,XY complete gonadal dysgenesis.An Pediatr (Barc). 2014; 81 ([in Spanish]): 246
Published online: July 26, 2019
The authors indicate no conflicts of interest.
© 2019 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc.