GTR Home > Conditions/Phenotypes > Androgen resistance syndrome

Disease characteristics

Excerpted from the GeneReview: Androgen Insensitivity Syndrome
Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.

Associated genes

  • Also known as: RP11-383C12.1, AIS, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM, AR
    Summary: androgen receptor

Clinical features

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  • Primary amenorrhea
  • Neoplasm
  • Female external genitalia in individual with 46,XY karyotype
  • Absent facial hair
  • Sparse pubic hair
  • Sparse axillary hair
  • Gynecomastia
  • Inguinal hernia
  • Growth abnormality
  • Abnormality of metabolism/homeostasis
  • Elevated follicle stimulating hormone
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