Androgeninsensitivitetssyndrom.
(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:
https://lup.lub.lu.se/record/1052909
- author
- Giwercman, Yvonne LU and Svensson, Johan
- organization
- alternative title
- Androgen insensitivity syndrome
- publishing date
- 2008
- 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
- scopus:40649108082
- 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
- 2016-04-04 09:30:31
- date last changed
- 2022-01-29 18:11:01
@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}},
keywords = {{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.}},
url = {{http://www.ncbi.nlm.nih.gov/pubmed/18311203?dopt=Abstract}},
volume = {{128}},
year = {{2008}},
}