Orphanet: Partial androgen insensitivity syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


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.

Captcha image

Partial androgen insensitivity syndrome

Disease definition

A disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.


Classification level: Disorder
  • Synonym(s):
    • PAIS
    • Partial androgen resistance syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E34.5
  • OMIM: 312300
  • UMLS: C0268301  C0860159
  • MeSH: -
  • GARD: 5692
  • MedDRA: -

Detailed information

Article for general public


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.