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Androgen insensitivity syndrome

Disease definition

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).

ORPHA:754

Classification level: Group of disorders
  • 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
  • ICD-11: LD2A.4
  • OMIM: -
  • UMLS: C0039585
  • MeSH: D013734
  • GARD: 5803
  • MedDRA: 10056292

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf)

Detailed information

General public

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.