Androgen Insensitivity Syndrome: Clinical And Molecular Research

Androgen insensitivity syndrome(AIS) is an X-chromosome linked disorder with wide spectrum of clinical manifestations, ranging from a female phenotype to phenotypically males. It is now realized to be due to defects in androgen receptor(AR) preventing the normal physiological effect of androgen resulting in abnormal sexual differentiation and development in 46,XY individuals. This research tries to set up a simple and reliable method to detect the AR gene mutation in AIS in order to understand the mechanism of AIS and its characteristics of molecular biological changes in AIS among Chinese patients, and at the same time to provide methods for diagnosis and differential diagnosis of AIS.Retrospective analysis of 36 cases of AIS patients from the Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital showed: l)Complete AIS is easily diagnosed because of its specific clinical manifestations. 2)Differential diagnosis of incomplete AIS is difficult. 3)Testosterone level in AIS might be decreased rather than always in normal male range or increased. 4)The underdeveloped and undescended testes develop tumors frequently, the incidence of tumor in this research is 20%, higher than 6-9% reported by others. 5)The time of operation depends on the social sex, type of AIS, location of testes and degree of virilization of external genitalia of AIS patient..Androgen receptor gene mutations were studied in 10 cases of complete AIS(CAIS) and 7 cases of incomplete AIS(IAIS) of Chinese patients. Polymerase chain reaction (PCR) were performed from genomic DNA extracted from peripheral blood of...