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Complete androgen insensitivity syndrome

Disease definition

Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.

ORPHA:99429

  • Synonym(s):
    • CAIS
    • Complete androgen resistance syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E34.5
  • OMIM: 300068  300274
  • UMLS: -
  • MeSH: -
  • GARD: 10597
  • MedDRA: -

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