KEGG DISEASE: Androgen insensitivity syndrome

KEGG

DISEASE: Androgen insensitivity syndrome

Entry

H02177                      Disease

Name

Androgen insensitivity syndrome

Subgroup

Complete 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

Congenital malformation

Brite

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:

MeSH:

OMIM:

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

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)

LinkDB

» Japanese version

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