Abstract:

Androgen insensitivity syndrome is a disease of sexual abnormality. The major cause is the mutation of androgen receptor gene. The karyotype is 46, XY. The syndrome is male pseudohermaphroditism and clinical manifestations are different levels of women posture changes and significant decrease of fertility, which remarkably affect the quality of life and mentality of patients. At present the treatment of patients with this syndrome is the comprehensive treatment based on sex assignment. This paper reviews advances of diagnosis and treatment of androgen insensitivity syndrome with the purposes of increasing the rate of early diagnosis, facilitating individualized and multidisciplinary therapies, and improving patients' quality of life.

Key words: androgen insensitivity syndrome, androgen receptor, gonadal tumor, surgerical therapy, hormone replacement therapy