Androgen insensitivity syndrome risk factors
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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 at an early stage. [2]
- 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.
- ↑ Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Ledbetter N, Mefford HC, Smith R, Stephens K, Gottlieb B, Trifiro MA. PMID 20301602. Vancouver style error: initials (help); Missing or empty
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