Androgen insensitivity syndrome causes: Difference between revisions
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*Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor—a transcription factor. | *Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor—a transcription factor. | ||
*More than 800 mutations in the AR gene have been reported in AIS patients. <ref name="pmid23044881">{{cite journal| author=Hughes IA, Werner R, Bunch T, Hiort O| title=Androgen insensitivity syndrome. | journal=Semin Reprod Med | year= 2012 | volume= 30 | issue= 5 | pages= 432-42 | pmid=23044881 | doi=10.1055/s-0032-1324728 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23044881 }} </ref> | *More than 800 mutations in the AR gene have been reported in AIS patients. <ref name="pmid23044881">{{cite journal| author=Hughes IA, Werner R, Bunch T, Hiort O| title=Androgen insensitivity syndrome. | journal=Semin Reprod Med | year= 2012 | volume= 30 | issue= 5 | pages= 432-42 | pmid=23044881 | doi=10.1055/s-0032-1324728 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23044881 }} </ref> | ||
*AIS phenotype majorly depends on the degree of residual androgen receptor (AR) activity | |||
*Most severe mutations are generally associated with a CAIS phenotype. | *Most severe mutations are generally associated with a CAIS phenotype. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Causes
- Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor—a transcription factor.
- More than 800 mutations in the AR gene have been reported in AIS patients. [1]
- AIS phenotype majorly depends on the degree of residual androgen receptor (AR) activity
- Most severe mutations are generally associated with a CAIS phenotype.
References
- ↑ Hughes IA, Werner R, Bunch T, Hiort O (2012). "Androgen insensitivity syndrome". Semin Reprod Med. 30 (5): 432–42. doi:10.1055/s-0032-1324728. PMID 23044881.