Rare case of complete gonadal dysgenesis 46 XY, Swyer syndrome

Authors

  • Aravind Chander Department of Reproductive Medicine, Iswarya women’s hospital and Fertility Center, Coimbatore, Tamil nadu, India-641044
  • Reshma Shri Department of Reproductive Medicine, Iswarya women’s hospital and Fertility Center, Coimbatore, Tamil nadu, India-641044
  • Arun Muthuvel Department of Reproductive Medicine, Iswarya women’s hospital and Fertility Center, Coimbatore, Tamil nadu, India-641044
  • Chandralekha Veluswamy Department of Reproductive Medicine, Iswarya women’s hospital and Fertility Center, Coimbatore, Tamil nadu, India-641044

DOI:

https://doi.org/10.18203/2320-6012.ijrms20170181

Keywords:

Gonadal dysgenesis, Primary amenorrhea, Swyer syndrome

Abstract

Swyer syndrome also known as 46XY complete gonadal dysgenesis is a rare cause of primary amenorrhea. These patients are phenotypically females with female type of internal and external genitalia with absence of testicular tissues. They have streak gonads which have increased potential to turn into malignancy.  Bilateral gonadectomy should be done as soon as diagnosis is made. In present case, 20 years unmarried female came with complaints of menstrual bleeding only on taking medication. She never attained menarche, following which she was started on treatment outside, on withdrawal bleeding for the past 3 years. She was now evaluated and diagnosed as Swyer syndrome and bilateral gonadectomy was done laproscopically. Swyer syndrome patients can get married, have normal sexual life and can get pregnant through invitro fertilisation with donor oocyte if desired.

References

Coutin AS, Hamy A, Fondevilla M, Savigny B, Paineau J, Visset J. Pure 46, XY gonadal dysgenesis. J Gynecol Obstet Biol Reprod (Paris). 1996;25(8):792-6.

Behtash N, Karimi Zarchi M. Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol. 2007;5:71.

Wang YHY, Li Q, Dai S, He A, Wang E. Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report. Diagn Pathol. 2011;6:84.

Vincent RH, Michael JC, Anthony A. The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]. Endocrine Reviews. 2003;24:466-87.

Hanley, NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, SalasCortes L et al. SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev. 2000;91:403-7.

Speroff L, Feritz MA. Clinical Gynecologic Endocrinology and infertility. (8th edition) 2005:365-6, 372-4.

Vollrath D, Foote S, Hilton A, Page DC. The human Y chromosome Swyer GIM. Male Pseudohermaphroditism: A Hitherto Underscriebed Form. Br Med. 1995;2:709-12.

Quigley CA, De Bellis A, Marschke KB, El-Awady MK, Wilson EM. Androgen receptor defects: historical, clinical and molecular perspectives. Endocr Rev. 1995;16:271-321.

Bangsbøll S, Qvist I, Lebech PE, Lewinsky M. Testicular feminization syndrome and associated gonadal tumours in Denmark. Acta Obstet Gynecol Scand. 1992;71:63.

Gravholt CH. Clinical practice in Turner syndrome. Nat Clin Pract Endocrinol Metab. 2005;1:41-52.

Downloads

Published

2017-01-23

How to Cite

Chander, A., Shri, R., Muthuvel, A., & Veluswamy, C. (2017). Rare case of complete gonadal dysgenesis 46 XY, Swyer syndrome. International Journal of Research in Medical Sciences, 5(2), 714–716. https://doi.org/10.18203/2320-6012.ijrms20170181

Issue

Section

Case Reports