x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

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

Detailed information

General public

Guidelines

Disease review articles

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