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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.

ORPHA:90797

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

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