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Androgen insensitivity syndrome

Orpha number ORPHA754
Synonym(s) AIS
Androgen resistance syndrome
Goldberg-Maxwell syndrome
Morris syndrome
Testicular feminization syndrome
Prevalence Unknown
Inheritance X-linked recessive
Age of onset Antenatal
Neonatal
ICD-10
  • E34.5
ICD-O -
OMIM -
UMLS
  • C0039585
  • C0936016
MeSH
  • D013734
MedDRA
  • 10056292

Summary

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).

Expert reviewer(s)

  • Pr Ieuan HUGHES

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Detailed information

Summary information
Review article
  • EN (2012)Patient Inform
Clinical practice guidelines
  • ES (2013,pdf)
  • DE (2010)
Clinical genetics review
  • EN (2014)
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