Bilateral Incidental Gonadoblastoma in a Woman with Swyer Syndrome Presenting with Primary Amenorrhea

  • Shahram Shabaninia Department of Urology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  • Seyed Reza Yahyazadeh Department of Urology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  • Amin Azadfar Department of Urology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  • Mahrouz Amirheydari Department of Urology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Keywords: Amenorrhea, Swyer syndrome, Gonadoblastoma, Gonadal dysgenesis

Abstract

Swyer syndrome is a very rare cause of primary amenorrhea. Affected individuals have an XY karyotype but their external and internal genitalia are of the female type. The gonads are usually replaced by fibrous streaks. Early diagnosis is vital because of the significant risk of germ cell tumor, and bilateral gonadectomy should be performed. Laparoscopy provides a minimally invasive approach for the management of these cases. These patients can have a normal sexual intercourse and they need hormone replacement therapy for development of breast and prevention of osteoporosis. They can conceive through oocyte donation and artificial reproductive techniques.   

Author Biographies

Shahram Shabaninia, Department of Urology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
     
Seyed Reza Yahyazadeh, Department of Urology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
    
Amin Azadfar, Department of Urology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
   
Mahrouz Amirheydari, Department of Urology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
   

References

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King TF, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes 2014; 21(6): 504-10.

Hersmus R, de Leeuw BH, Stoop H, Bernard P, van Doorn HC, Bruggenwirth HT, et al. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. Eur J Hum Genet 2009; 17(12): 1642-9.

Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, et al. A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splicesite mutation. PLoS One 2012; 7(7): e40858.

Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: Presentation and outcomes. BJOG 2008; 115(6): 737-41.

Published
2018-05-14
How to Cite
1.
Shabaninia S, Yahyazadeh SR, Azadfar A, Amirheydari M. Bilateral Incidental Gonadoblastoma in a Woman with Swyer Syndrome Presenting with Primary Amenorrhea. CRCP. 2(4):94-7.
Section
Case Report(s)