[Androgen insensitivity syndrome].
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.


METHODS
The article is based on literature retrieved from PubMed, the androgen receptor mutation database and the authors' own research and clinical experience.


CONCLUSIONS
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.
Giwercman
Yvonne Lundberg
YL
Molekylärmedicinsk reproduktionsforskning Institutionen för kliniska vetenskaper Lunds Universitet S-20502 Malmö. yvonne.giwercman@med.lu.se
Svensson
Johan
J
D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011606:Psychosexual Development; D011944:Receptors, Androgen / Q000235:genetics; D012733:Sex Differentiation / Q000235:genetics
D011944:Receptors, Androgen