Androgen insensitivity syndrome risk factors: Difference between revisions
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*The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood.<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> | *The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood.<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> | ||
* | |||
*Evaluation of Relatives at Risk may help identify affected individuals early. | |||
**It is advisable to evaluate the apparently asymptomatic older and younger siblings of a proband in order to identify as early as possible those who would benefit from institution of treatment and preventive measures. | |||
**Evaluations can include karyotype in siblings who have normal external female genitalia but have not yet undergone menarche. | |||
Molecular genetic testing can be pursued next if a phenotypic female is found to have a 46,XY karyotype and if the AR variant in the family is known. | |||
Androgen binding assays may be considered if an AR variant has not been identified in the family. | |||
==References== | ==References== | ||
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Overview
Risk Factors
- The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood.[1]
- Evaluation of Relatives at Risk may help identify affected individuals early.
- It is advisable to evaluate the apparently asymptomatic older and younger siblings of a proband in order to identify as early as possible those who would benefit from institution of treatment and preventive measures.
- Evaluations can include karyotype in siblings who have normal external female genitalia but have not yet undergone menarche.
Molecular genetic testing can be pursued next if a phenotypic female is found to have a 46,XY karyotype and if the AR variant in the family is known. Androgen binding assays may be considered if an AR variant has not been identified in the family.
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.