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Androgen insensitivity syndrome

Disease definition

Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms).

ORPHA:754

  • Synonym(s):
    • AIS
    • Androgen resistance syndrome
    • Goldberg-Maxwell syndrome
    • Morris syndrome
    • Testicular feminization syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: E34.5
  • OMIM: -
  • UMLS: C0039585  C0936016
  • MeSH: D013734
  • GARD: -
  • MedDRA: 10056292

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