Androgen insensitivity syndrome causes: Difference between revisions
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==Overview== | ==Overview== | ||
Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene. | Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene. AR gene defects inhibit the normal development of both internal and external genital structures in 46,XY 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> | ||
==Causes== | ==Causes== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene. AR gene defects inhibit the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia. [1]
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.
- Defects in the AR gene prevent the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia. [1]
- More than 800 mutations in the AR gene have been reported in AIS patients. [2]
- AIS phenotype majorly depends on the degree of residual androgen receptor (AR) activity
- Most severe mutations are generally associated with a CAIS phenotype.
References
- ↑ 1.0 1.1 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.