Androgen insensitivity syndrome risk factors: Difference between revisions
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==Risk Factors== | ==Risk Factors== | ||
*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|'''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> | ||
* Benign tumors of non-germ-cell origin include '''[[Sertoli cell]] [[adenoma]]''' and '''[[hamartomas]]'''. <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> | * Benign tumors of non-germ-cell origin include '''[[Sertoli cell]] [[adenoma]]''' and '''[[hamartomas]]'''. <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> | ||
*Studies have suggested an increased tumor risk of greater than 30% in late adulthood if gonadectomy is not done and a review of the risk of adult women with complete androgen insensitivity syndrome having a [[gonadal]] tumor could not be more specific than 0–22%. Specific analyses in large sample groups suggest a [[germ cell tumor]] risk as low as 0·8–2%, especially before [[puberty]]. <ref name="pmid20301602">{{cite journal |vauthors=Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, Gottlieb B, Trifiro MA |title= |journal= |volume= |issue= |pages= |year= |pmid=20301602 |doi= |url=}}</ref> | *Studies have suggested an increased tumor risk of greater than 30% in late adulthood if gonadectomy is not done and a review of the risk of adult women with complete androgen insensitivity syndrome having a [[gonadal]] tumor could not be more specific than 0–22%. Specific analyses in large sample groups suggest a [[germ cell tumor]] risk as low as 0·8–2%, especially before [[puberty]]. <ref name="pmid20301602">{{cite journal |vauthors=Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, Gottlieb B, Trifiro MA |title= |journal= |volume= |issue= |pages= |year= |pmid=20301602 |doi= |url=}}</ref> | ||
*Evaluation of Relatives at Risk may help identify affected individuals at an early stage. <ref name="pmid20301602">{{cite journal |vauthors=Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, Gottlieb B, Trifiro MA |title= |journal= |volume= |issue= |pages= |year= |pmid=20301602 |doi= |url=}}</ref> | *Evaluation of Relatives at Risk may help identify affected individuals at an early stage. <ref name="pmid20301602">{{cite journal |vauthors=Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, Gottlieb B, Trifiro MA |title= |journal= |volume= |issue= |pages= |year= |pmid=20301602 |doi= |url=}}</ref> | ||
**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. | ||
**For an apparently asymptomatic older or younger sib who has normal external female genitalia and who has not yet undergone [[menarche]], a [[karyotype]] can be done first. For those [[phenotypic]] females who have a 46,XY [[karyotype]], molecular genetic testing for the known [[androgen receptor]] ([[Androgen receptor|AR]]) variant in the family can be pursued next. If the [[androgen receptor]] ([[Androgen receptor|AR]]) variant in the family is not known, [[androgen]] binding [[assays]] could be considered. | **For an apparently asymptomatic older or younger sib who has normal external female genitalia and who has not yet undergone [[menarche]], a [[karyotype]] can be done first. For those [[phenotypic]] females who have a 46,XY [[karyotype]], molecular [[genetic testing]] for the known [[androgen receptor]] ([[Androgen receptor|AR]]) variant in the family can be pursued next. If the [[androgen receptor]] ([[Androgen receptor|AR]]) variant in the family is not known, [[androgen]] binding [[assays]] could be considered. | ||
==References== | ==References== | ||
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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
The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood. Benign tumors of non-germ-cell origin include Sertoli cell adenoma and hamartomas.
Risk Factors
- The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood.[1]
- Benign tumors of non-germ-cell origin include Sertoli cell adenoma and hamartomas. [2]
- Studies have suggested an increased tumor risk of greater than 30% in late adulthood if gonadectomy is not done and a review of the risk of adult women with complete androgen insensitivity syndrome having a gonadal tumor could not be more specific than 0–22%. Specific analyses in large sample groups suggest a germ cell tumor risk as low as 0·8–2%, especially before puberty. [3]
- Evaluation of Relatives at Risk may help identify affected individuals at an early stage. [3]
- 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.
- For an apparently asymptomatic older or younger sib who has normal external female genitalia and who has not yet undergone menarche, a karyotype can be done first. For those phenotypic females who have a 46,XY karyotype, molecular genetic testing for the known androgen receptor (AR) variant in the family can be pursued next. If the androgen receptor (AR) variant in the family is not known, androgen binding assays could be considered.
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.
- ↑ 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.
- ↑ 3.0 3.1 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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