Androgen insensitivity syndrome

Curr Opin Endocrinol Diabetes Obes. 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107.


Purpose of review: Androgen insensitivity syndrome (AIS) can present with a wide range of phenotypes, and its management requires a multidisciplinary approach from diagnosis in infancy to adulthood. This review provides an update on some clinical and genetic aspects in AIS. Additional outcome data on surgical and psychosexual findings are presented, together with a discussion on the risk of development of gonadal tumours in AIS.

Recent findings: This review covers clinical features of AIS, including recent trends in sex of rearing, aspects of androgen receptor gene mutations and longer term outcomes in both complete and partial forms of AIS.

Summary: More follow-up studies are needed to optimize management in AIS, especially in the partial form. Predicting the risk of gonadal tumours is key to determining the timing of gonadectomy or whether to retain the gonads in the long term.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Androgen-Insensitivity Syndrome / diagnosis*
  • Androgen-Insensitivity Syndrome / genetics
  • Androgen-Insensitivity Syndrome / pathology
  • Genetic Counseling
  • Gonads / pathology*
  • Humans
  • Male
  • Neoplasms, Germ Cell and Embryonal / genetics
  • Neoplasms, Germ Cell and Embryonal / pathology
  • Neoplasms, Germ Cell and Embryonal / prevention & control*
  • Neoplasms, Gonadal Tissue / genetics
  • Neoplasms, Gonadal Tissue / pathology
  • Neoplasms, Gonadal Tissue / prevention & control*
  • Phenotype
  • Prognosis
  • Receptors, Androgen / genetics*
  • Risk Factors


  • Receptors, Androgen