TY - JOUR AB - Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y‑chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present study reports a unique case of a phenotypically normal female (age 17 years), presenting with primary amenorrhea and later diagnosed with 46,XY female sex reversal syndrome. Following bilateral gonadectomy, bilateral gonadoblastoma and dysgerminoma were diagnosed. Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and to prevent osteoporosis. A four year follow‑up showed no tumor recurrence and a regular menstrual cycle in this patient. AD - Department of Obstetrics and Gynecology, General Hospital, Tianjin Medical University, Tianjin 300052, P.R. China Department of Microbiology and Immunology, Tianjin Medical University, Tianjin 300070, P.R. China AU - Du,Xue AU - Zhang,Xuhong AU - Li,Yongmei AU - Han,Yukun DA - 2014/10/01 DO - 10.3892/etm.2014.1922 EP - 1104 IS - 4 JO - Exp Ther Med KW - sex reversal syndrome simple gonadal dysgenesis gonadoblastoma dysgerminoma sex determining region Y gene PY - 2014 SN - 1792-0981 1792-1015 SP - 1102 ST - 46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma T2 - Experimental and Therapeutic Medicine TI - 46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma UR - https://doi.org/10.3892/etm.2014.1922 VL - 8 ER -