Dysgerminoma presenting at fifty, consequence to undiagnosed Swyer syndrome

Sapna Vinit Amin; Aswathy Kumaran

doi:10.18203/2320-1770.ijrcog20212993

Authors

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

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20212993

Keywords:

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

Abstract

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.

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