The androgen receptor. New aspects in intersexuality patients

: Androgen resistance is thought to vary phenotypically from a normal female to an infertile male. At the functional level a variety of defects have been detected in cultured skin fibroblasts in these patients. Since the isolation and cloning of the 5 alpha-reductase and the androgen receptor gene, several new disorders have been characterized at the molecular level, including major gene rearrangements, deletions and defects in RNA splicing, and single amino acid substitutions. These studies have provided insight into the spectrum of mechanisms that can alter receptor function and serve to increase our understanding of the etiology in patients with androgen resistance.