Androgen insensitivity syndrome causes: Difference between revisions
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==Overview== | ==Overview== | ||
Androgen insensitivity syndrome is | Androgen insensitivity syndrome is due to [[mutations]] in the [[X-linked]] [[androgen receptor]] gene. [[Androgen receptor]] ([[Androgen receptor|AR]]) gene defects inhibit the normal development of both internal and [[External genitalia|external genital]] structures in 46XY individuals, causing a variety of [[phenotypes]] ranging from male [[infertility]] to completely normal female [[external genitalia]]. | ||
==Causes== | ==Causes== | ||
*Androgen insensitivity syndrome is | *Androgen insensitivity syndrome is due to [[mutations]] in the [[X-linked]] [[androgen receptor]] [[androgen receptor|(]][[Androgen receptor|AR]][[androgen receptor|)]] gene, which encodes for the ligand-activated [[androgen receptor]] - a [[transcription factor]].<ref name="pmid22698698">{{cite journal| author=Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J| title=Androgen insensitivity syndrome. | journal=Lancet | year= 2012 | volume= 380 | issue= 9851 | pages= 1419-28 | pmid=22698698 | doi=10.1016/S0140-6736(12)60071-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22698698 }} </ref> | ||
*Defects in the AR gene prevent the normal development of both internal and external genital structures in | *Defects in the [[androgen receptor]] [[androgen receptor|(]][[Androgen receptor|AR]][[androgen receptor|)]] gene prevent the normal development of both internal and [[External genitalia|external genital]] structures in 46XY individuals, causing a variety of phenotypes ranging from [[male infertility]] to completely normal female [[external genitalia]]. <ref name="pmid18694860">{{cite journal| author=Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A| title=Androgen insensitivity syndrome: clinical features and molecular defects. | journal=Hormones (Athens) | year= 2008 | volume= 7 | issue= 3 | pages= 217-29 | pmid=18694860 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18694860 }} </ref> | ||
* | *There have been more than 800 mutations in the [[androgen receptor]] [[Androgen receptor|(]][[Androgen receptor|AR]][[Androgen receptor|)]] gene 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 | *AIS phenotype majorly depends on the degree of residual [[androgen receptor]] ([[Androgen receptor|AR]]) activity. | ||
*Most severe mutations are generally associated with a CAIS phenotype. | *Most severe [[mutations]] are generally associated with a CAIS phenotype. | ||
==References== | ==References== | ||
Latest revision as of 11:07, 31 August 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]
Overview
Androgen insensitivity syndrome is due to mutations in the X-linked androgen receptor gene. Androgen receptor (AR) gene defects inhibit the normal development of both internal and external genital structures in 46XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia.
Causes
- Androgen insensitivity syndrome is due to mutations in the X-linked androgen receptor (AR) gene, which encodes for the ligand-activated androgen receptor - a transcription factor.[1]
- Defects in the androgen receptor (AR) gene prevent the normal development of both internal and external genital structures in 46XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia. [2]
- There have been more than 800 mutations in the androgen receptor (AR) gene reported in AIS patients. [3]
- 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, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012). "Androgen insensitivity syndrome". Lancet. 380 (9851): 1419–28. doi:10.1016/S0140-6736(12)60071-3. PMID 22698698.
- ↑ Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008). "Androgen insensitivity syndrome: clinical features and molecular defects". Hormones (Athens). 7 (3): 217–29. PMID 18694860.
- ↑ 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.