Dysgerminoma presenting at fifty, consequence to undiagnosed Swyer syndrome


  • Sapna Vinit Amin Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal, Karnataka, India
  • Aswathy Kumaran Department of Reproductive Medicine, Aster MIMS, Kottakkal, Kerala, India




Reproductive Health, Cancer prevention, Swyer syndrome, Gonadal dysgenesis, Dysgerminoma


Swyer syndrome or XY complete gonadal dysgenesis (CGD) is a rare disorder of sex development (DSD) characterized by presence of dysgenetic gonads in a phenotypically female patient with a male karyotype. Usually Swyer syndrome is diagnosed following appropriate evaluation for amenorrhea in adolescence and prophylactic gonadectomy is done as these patients have high risk of developing malignancy in their dysgenetic gonads.  Here we presented patient who presented later in life with gonadal malignancy which turned out to be a consequence of undiagnosed Swyer syndrome. Her case exemplifies that fact that improper evaluation of primary amenorrhea in adolescence and omission to do prophylactic bilateral gonadectomy led to her presenting with malignancy at this advanced age. Therefore, be aware to not let Swyer syndrome go undiagnosed and mismanaged.


Swyger GI. Male pseudohermaphroditism: a hitherto undescribed form. Br Med J. 1955;2(4941):709-12.

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

Ostrer H. 46 XY Disorder of Sex Development and 46 XY Complete Gonadal Dysgenesis, 2021. Available at: http://www.genetests.org. Accessed on 23 May 2021.

Speroff L, Feritz MA. Clinical Gynecologic Endocrinology and infertility. 7th ed. Lippincott Williams and Wilkins; 2005: 322-325, 348-349, 386-387.

Dimitri P, Cohen M, Wright N. Indications for familial screening and gonadectomy in patients with 46,XY gonadal dysgenesis. Int J Gynaecol Obstet. 2006;95(2):167-8.

Kawai M, Kano T, Kikkawa F, Morikawa Y, Oguchi H, Nakashima N, et al. Seven tumor markers in benign and malignant germ cell tumors of the ovary. Gynecol Oncol. 1992;45(3):248-53.

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

Radakovic B, Jukic S, Bukovic D, Ljubojevic N, Cima I. Morphology of gonads in pure XY gonadal dysgenesis. Coll Antropol 1999;23:203-11.

Clure N, Henry O, Harley JM. Pure XY gonadal dysgenesis presenting as secondary amenorrhea. A case report. J Reprod Med. 1992;37(3):291-2.

Karimian N, Ghadakzadeh S, Eshraghi M. Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. Fertil Steril. 2010;93(1):267.






Case Reports