Androgen Resistance

Abstract

Androgen insensitivity arises from target tissue resistance to androgens. Androgen insensitivity syndrome (AIS) is the most common specific etiology of 46,XY disorder of sex development. It is a result of the failure of androgens to act via the androgen receptor. The phenotype is variable, from female phenotype in complete AIS to male phenotype with gynecomastia or infertility in minimal AIS, depending on the residual androgen receptor activity. More than 400 different androgen receptor mutations have been reported and they have been identified in all eight exons of the gene. The treatment consists of counseling, psychosocial support, endocrine therapy, and surgery. Both hormonal substitution and timing of surgery are still controversial.