[Androgen insensitivity syndrome].

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.

• Authors: Yvonne Lundberg Giwercman, Johan Svensson
• Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke (Tidsskr Nor Laegeforen) Vol. 128 Issue 5 Pg. 581-5 (Feb 28 2008) ISSN: 0807-7096 [Electronic] Norway
• Vernacular Title: Androgeninsensitivitetssyndrom.
• PMID: 18311203 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Receptors, Androgen

Topics

• Adolescent
• Adult
• Androgen-Insensitivity Syndrome (diagnosis, genetics, psychology, therapy)
• Child
• Diagnosis, Differential
• Female
• Humans
• Infant, Newborn
• Male
• Mutation
• Psychosexual Development
• Receptors, Androgen (genetics)
• Sex Differentiation (genetics)