Advanced

Androgeninsensitivitetssyndrom.

Giwercman, Yvonne LU and Svensson, Johan (2008) In Tidsskrift for den Norske Laegeforening 128(5). p.581-585
Abstract
BACKGROUND: Androgen insensitivity is caused by mutations in the androgen receptor gene, and is a common etiological factor to ambiguous genitalia in the newborn. This article discusses the role of androgens in sex differentiation, the structure and function of the androgen receptor, the genetic background to androgen insensitivity as well as clinical aspects. MATERIAL AND METHODS: The article is based on literature retrieved from PubMed, the androgen receptor mutation database and the authors' own research and clinical experience. RESULTS AND DISCUSSION: Androgen insensitivity encompasses a wide spectrum of clinical manifestations. Besides exclusion of possible differential diagnosis, the diagnostic work-up includes a clinical assessment... (More)
BACKGROUND: Androgen insensitivity is caused by mutations in the androgen receptor gene, and is a common etiological factor to ambiguous genitalia in the newborn. This article discusses the role of androgens in sex differentiation, the structure and function of the androgen receptor, the genetic background to androgen insensitivity as well as clinical aspects. MATERIAL AND METHODS: The article is based on literature retrieved from PubMed, the androgen receptor mutation database and the authors' own research and clinical experience. RESULTS AND DISCUSSION: Androgen insensitivity encompasses a wide spectrum of clinical manifestations. Besides exclusion of possible differential diagnosis, the diagnostic work-up includes a clinical assessment of the androgen receptor's susceptibility to androgen stimulation as well as molecular genetic analysis of the androgen receptor gene. The condition should be managed with a multidisciplinary approach by teams competent to treat children with disorders of sexual development. (Less)
Please use this url to cite or link to this publication:
author
organization
alternative title
Androgen insensitivity syndrome
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Sex Differentiation: genetics, Androgen: genetics, Receptors, Androgen-Insensitivity Syndrome: therapy, Androgen-Insensitivity Syndrome: psychology, Androgen-Insensitivity Syndrome: diagnosis, Androgen-Insensitivity Syndrome: genetics
in
Tidsskrift for den Norske Laegeforening
volume
128
issue
5
pages
581 - 585
publisher
Norsk laegeforening
external identifiers
  • PMID:18311203
ISSN
0807-7096
language
Norwegian
LU publication?
yes
id
bf1c5139-0c5e-4ee6-9488-d74836fd6b63 (old id 1052909)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18311203?dopt=Abstract
date added to LUP
2008-04-01 11:43:41
date last changed
2016-09-30 05:53:59
@article{bf1c5139-0c5e-4ee6-9488-d74836fd6b63,
  abstract     = {BACKGROUND: Androgen insensitivity is caused by mutations in the androgen receptor gene, and is a common etiological factor to ambiguous genitalia in the newborn. This article discusses the role of androgens in sex differentiation, the structure and function of the androgen receptor, the genetic background to androgen insensitivity as well as clinical aspects. MATERIAL AND METHODS: The article is based on literature retrieved from PubMed, the androgen receptor mutation database and the authors' own research and clinical experience. RESULTS AND DISCUSSION: Androgen insensitivity encompasses a wide spectrum of clinical manifestations. Besides exclusion of possible differential diagnosis, the diagnostic work-up includes a clinical assessment of the androgen receptor's susceptibility to androgen stimulation as well as molecular genetic analysis of the androgen receptor gene. The condition should be managed with a multidisciplinary approach by teams competent to treat children with disorders of sexual development.},
  author       = {Giwercman, Yvonne and Svensson, Johan},
  issn         = {0807-7096},
  keyword      = {Sex Differentiation: genetics,Androgen: genetics,Receptors,Androgen-Insensitivity Syndrome: therapy,Androgen-Insensitivity Syndrome: psychology,Androgen-Insensitivity Syndrome: diagnosis,Androgen-Insensitivity Syndrome: genetics},
  language     = {nor},
  number       = {5},
  pages        = {581--585},
  publisher    = {Norsk laegeforening},
  series       = {Tidsskrift for den Norske Laegeforening},
  title        = {Androgeninsensitivitetssyndrom.},
  volume       = {128},
  year         = {2008},
}