Endocrine Abstracts

Aim: The Swyer syndrome belongs to a group of pure gonadal dysgenesis. Karyotype is 46,XY. Aberrations of chromosome Y or SRY gene mutation is present in 15–30% of cases. These patients have high gonadotropin levels and are classified as having hypergonadotropic hypogonadism. The Swyer syndrome in the female requires close followup because of the high risk of neoplastic transformation in the dysgenetic gonads. Herein we report a case of Swyer syndrome with gonadoblastoma ...