Androgen insensitivity syndrome

Gynecol Endocrinol. 2013 Jan;29(1):1-5. doi: 10.3109/09513590.2012.705378. Epub 2012 Jul 20.


Androgen insensitivity syndrome (AIS) is a disorder caused by a mutation of the gene encoding the androgen receptor (AR; Xq11-q12). The prevalence of AIS has been estimated to be one case in every 20,000 to 64,000 newborn males for the complete syndrome (CAIS), and the prevalence is unknown for the partial syndrome (PAIS). The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. Various forms of ambiguous genitalia have been observed at birth. The diagnosis is confirmed by determining the exact mutation in the AR gene. PAIS individuals require precise diagnosis as early as possible so that the sex can be assigned, treatment can be recommended, and they can receive proper genetic counseling. After birth, differential diagnosis should be performed using other forms of abnormal sexual differentiation of primary amenorrhea. The treatment of AIS is based on reinforcement sexual identity, gonadectomy planning, and hormone replacement therapy. The prognosis for CAIS is good if the testicular tissue is removed at the appropriate time. For PAIS, the prognosis depends on the ambiguity of the genitalia and physical and psychosocial adjustment to the assigned sex.

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / deficiency
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics
  • 46, XX Disorders of Sex Development
  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Androgen-Insensitivity Syndrome / diagnosis*
  • Androgen-Insensitivity Syndrome / epidemiology
  • Androgen-Insensitivity Syndrome / genetics*
  • Androgen-Insensitivity Syndrome / therapy
  • Congenital Abnormalities
  • Diagnosis, Differential
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / epidemiology
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / therapy
  • Female
  • Genetic Counseling
  • Genotype
  • Humans
  • Kidney / abnormalities
  • Male
  • Mullerian Ducts / abnormalities
  • Phenotype
  • Prevalence
  • Prognosis
  • Receptors, Androgen / genetics*
  • Somites / abnormalities
  • Spine / abnormalities
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics
  • Uterus / abnormalities
  • Vagina / abnormalities


  • Receptors, Androgen
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase

Supplementary concepts

  • Mullerian aplasia