Phenotypic heterogeneity of mutations in androgen receptor gene

Asian J Androl. 2007 Mar;9(2):147-79. doi: 10.1111/j.1745-7262.2007.00250.x.


Androgen receptor (AR) gene has been extensively studied in diverse clinical conditions. In addition to the point mutations, trinucleotide repeat (CAG and GGN) length polymorphisms have been an additional subject of interest and controversy among geneticists. The polymorphic variations in triplet repeats have been associated with a number of disorders, but at the same time contradictory findings have also been reported. Further, studies on the same disorder in different populations have generated different results. Therefore, combined analysis or review of the published studies has been of much value to extract information on the significance of variations in the gene in various clinical conditions. AR genetics has been reviewed extensively but until now review articles have focused on individual clinical categories such as androgen insensitivity, male infertility, prostate cancer, and so on. We have made the first effort to review most the aspects of AR genetics. The impact of androgens in various disorders and polymorphic variations in the AR gene is the main focus of this review. Additionally, the correlations observed in various studies have been discussed in the light of in vitro evidences available for the effect of AR gene variations on the action of androgens.

Publication types

  • Review

MeSH terms

  • Androgen-Insensitivity Syndrome / genetics
  • Androgen-Insensitivity Syndrome / physiopathology
  • Bone Diseases, Metabolic / genetics
  • Bone Diseases, Metabolic / physiopathology
  • Breast Neoplasms / genetics
  • Breast Neoplasms / physiopathology
  • Cognition Disorders / genetics
  • Cognition Disorders / physiopathology
  • Digestive System Diseases / genetics
  • Digestive System Diseases / physiopathology
  • Female
  • Genital Neoplasms, Female / genetics
  • Genital Neoplasms, Female / physiopathology
  • Genital Neoplasms, Male / genetics
  • Genital Neoplasms, Male / physiopathology
  • Humans
  • Infertility, Male / genetics
  • Male
  • Muscular Atrophy, Spinal / genetics
  • Muscular Atrophy, Spinal / physiopathology
  • Phenotype
  • Point Mutation
  • Polycystic Ovary Syndrome / genetics
  • Polycystic Ovary Syndrome / physiopathology
  • Polymorphism, Genetic*
  • Pre-Eclampsia / genetics
  • Pre-Eclampsia / physiopathology
  • Pregnancy
  • Receptors, Androgen / genetics*
  • Receptors, Androgen / physiology
  • Schizophrenia / genetics
  • Schizophrenia / physiopathology
  • Testosterone / deficiency
  • Trinucleotide Repeats


  • Receptors, Androgen
  • Testosterone