Progress in study on testicular feminization syndrome

Testicular feminization syndrome,the most common type of male pseudohermaphroditism,is an X-linked recessive disorder.It is characterized by varied phenotypes of feminization from almost nomal male to almost normal female of male individual with 46,XY karyotype who has testis,and normal or even elevated androgen levels.It is caused by mutations in the androgen receptor gene,resulting in decrease or absence of normal andrognen receptor.For present,it is generally considered that testectomy should be performed because of increased risk of malignant transformation of abnormal testiculus,but the timing of operation is controversial.In this article,we reviewed molecular mechanism of the disease,surgical procedure,timing of operation and so on.