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GENATLAS PHENOTYPE
last update : 13/06/2006
Symbol AIS
Location Xq11.21-q12.1
Name androgen insensitivity syndrome
Other name(s)
  • androgen resistance syndrome . testicular feminization . Reifenstein syndrome
    • Corresponding gene AR
    Other symbol(s) AIS
    Main clinical features
  • undermasculinization in presence of a 46, XY karyotype and normal testes . three broad phenotypes corresponding to a spectrum of defects in androgen action : - complete AIS with typical female genitalia - partial AIS with predominantly female, predominantly male or ambiguous genitalia - mild AIS with typical male genitalia
    • Genetic determination sex linked
    Related entries SBMA
    Function/system disorder endocrinology
    Type malformation
    Gene product
    Name androgen receptor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     Over 300 point mutations have been found with a majority of missense mutations impairing androgen binding
    nonsense     truncating mutations in exon 1 almost always cause CAIS
    repeat expansion     increased CAG repeat length in the infertile males and in moderate to severe undermasculinized genitalia in XY males
    Remark(s)
  • expansion of the polyglutamine tract (>40 CAG) causes spinobulbar muscular atrophy (SBMA) . disrupted N-/C-terminal interaction of AR is capable of providing the mechanism for androgen-insensitivity syndrome in most cases where the mutation in theligand binding domain does not disrupt ligand binding