[Pathogenesis of androgen insensitivity syndrome].

Androgen plays an important role in male sexual differentiation and the defect of androgen action mainly due to androgen receptor abnormality causes androgen insensitivity syndrome (AIS). The number of the reports of AR gene mutations is AIS reaches more than 250, including structural mutations such as gene deletion and single base mutations. The intriguing characteristics of the single amino acid substitutions by single base mutations are that...