Androgen insensitivity syndrome risk factors: Difference between revisions
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*Evaluation of Relatives at Risk may help identify affected individuals early. | *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. | **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. | **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. | 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. | ||
Revision as of 01:16, 11 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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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.