Molecular defects in the androgen receptor causing androgen resistance

Patients with androgen resistance exhibit a spectrum of abnormalities of male sexual development ranging from 46,XY phenotypic women (complete testicular feminization) to undervirilized fertile men. The definition of the androgen receptor gene structure has permitted the identification of the defects causing androgen resistance in a number of patients. In some individuals androgen resistance is caused by large-scale structural alterations in the androgen receptor gene. In most patients, however, the androgen receptor mutation is the result of single nucleotide substitutions, which cause premature termination or amino acid replacement that result in the synthesis of defective androgen receptor proteins. These amino acid substitutions identify residues crucial to the normal function of the androgen receptor protein.