KEGG   DISEASE: Androgen insensitivity syndrome
Entry
H02177                      Disease                                

Name
Androgen insensitivity syndrome
  Subgroup
Complate androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Description
Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action. Pathogenesis is the result of mutations in the X-linked androgen receptor (AR) gene, which encodes for the ligand-activated androgen receptor.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system diseases
   H02177  Androgen insensitivity syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2A  Malformative disorders of sex development
    H02177  Androgen insensitivity syndrome
Gene
AR [HSA:367] [KO:K08557]
Other DBs
ICD-11: LD2A.4
ICD-10: E34.5
MeSH: D013734
OMIM: 300068 312300
Reference
  Authors
Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J
  Title
Androgen insensitivity syndrome.
  Journal
Lancet 380:1419-28 (2012)
DOI:10.1016/S0140-6736(12)60071-3
Reference
PMID:1598912
  Authors
Klocker H, Kaspar F, Eberle J, Uberreiter S, Radmayr C, Bartsch G
  Title
Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.
  Journal
Am J Hum Genet 50:1318-27 (1992)
Reference
  Authors
Gottlieb B, Trifiro MA
  Title
Androgen Insensitivity Syndrome
  Journal
GeneReviews (1993)
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