SWYER SYNDROME: DIAGNOSTIC CHALLENGES, DISEASE MANAGEMENT AND INCREASED RISK OF OVARIAN GERM CELL NEOPLASIAS

Abstract

Summary. 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare disorder of sex development. It is characterized by typical female external genitalia, the uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional and are called streak gonads. Due to no gonadal potential, Swyer syndrome typically presents as primary amenorrhea and/or delayed puberty. Because of the high risk of germinogenic tumors, prophylactic bilateral gonadectomy is recommended at the time of diagnosis. Treatment is followed by hormone replacement therapy to induce and maintain typical pubertal development and to achieve optimal bone mineral accumulation.