hrp0092p3-223 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019
He Minfei
, Chen Hong
, Zhu Yilin
, Fang Yanlan
, Zhu Jianfang
, Liang Li
, Wang Chunling
Objective: To determine the mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with bilateral gonadoblastoma and coexisting dysgerminoma. Evaluate the functional consequence of mutated SRY gene in the tumor risk of 46,XY DSD.Methods and Materials: The proband was a 13-year-old girl who was admitted for examination due to undeveloped secondary sexual characteristics. She had no breas...