Androgen insensitivity syndrome primary prevention: Difference between revisions
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==Primary Prevention== | ==Primary Prevention== | ||
*Currently there are no established methods to prevent androgen insensitivity syndrome (AIS). However, various treatment options may help manage the symptoms of AIS. | *Currently there are no established methods to prevent androgen insensitivity syndrome (AIS). However, various treatment options may help manage the symptoms of AIS. | ||
*Genetic counseling is advisable for parents as well as the affected individuals. | *Genetic counseling is advisable for parents as well as the affected individuals. | ||
*The efficacy of androgen therapy in preventing manifestations such as [[gynecomastia]] is not clear. <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> | *The efficacy of androgen therapy in preventing manifestations such as [[gynecomastia]] is not clear. <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> | ||
*Androgen-insensitivity syndrome (AIS) (Testicular feminisation or Morris syndrome) is characterised by external female genitalia and bilateral testes with a normal male karyotype. This kind of syndrome is transmitted recessively. Presence of hypoplastic and short “pseudo-vagina” is one of the characteristics of this syndrome. Antenatal diagnosis laparoscopic management may be helpful in certain conditions. <ref name="pmid11807675">{{cite journal |vauthors=Lima M, Libri M, Morabito A, Lauro V, Tani G, Dòmini M |title=Antenatal diagnosis and early laparoscopic treatment of a rare variation of androgen-insensitivity syndrome |journal=Eur J Pediatr Surg |volume=11 |issue=6 |pages=422–4 |year=2001 |pmid=11807675 |doi=10.1055/s-2001-19719 |url=}}</ref> | |||
===Genetic counselling=== | ===Genetic counselling=== | ||
When a woman is diagnosed with CAIS or PAIS, referral to a [[genetic counselor]] may be warranted to explain the implications of the X-linked recessive inheritance. | When a woman is diagnosed with CAIS or PAIS, referral to a [[genetic counselor]] may be warranted to explain the implications of the X-linked recessive inheritance. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]: Associate Editor(s)-in-Chief:
Overview
Currently there are no established methods to prevent androgen insensitivity syndrome (AIS). However, various treatment options may help manage the symptoms of AIS. Genetic counseling is advisable for parents as well as the affected individuals.
Primary Prevention
- Currently there are no established methods to prevent androgen insensitivity syndrome (AIS). However, various treatment options may help manage the symptoms of AIS.
- Genetic counseling is advisable for parents as well as the affected individuals.
- The efficacy of androgen therapy in preventing manifestations such as gynecomastia is not clear. [1]
- Androgen-insensitivity syndrome (AIS) (Testicular feminisation or Morris syndrome) is characterised by external female genitalia and bilateral testes with a normal male karyotype. This kind of syndrome is transmitted recessively. Presence of hypoplastic and short “pseudo-vagina” is one of the characteristics of this syndrome. Antenatal diagnosis laparoscopic management may be helpful in certain conditions. [2]
Genetic counselling
When a woman is diagnosed with CAIS or PAIS, referral to a genetic counselor may be warranted to explain the implications of the X-linked recessive inheritance.
- The mother of the woman with AIS is likely to be an unaffected carrier of the gene on one of her X chromosomes.
- A mother who carries the defect will, on average, pass it to 50% of her children, whether XX or XY. Those who are XX will be similarly unaffected carriers who can pass it to succeeding generations. Those who are XY will have the condition but, being infertile, cannot pass it.
- If the family is large, other members can be found who have or carry AIS. Many women with AIS will be able to identify affected maternal relatives such as aunts or great aunts.
- Carrier detection by gene testing is now possible.
- A small percentage of new cases of AIS are due to new, spontaneous mutations.
References
- ↑ 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
|title=(help) - ↑ Lima M, Libri M, Morabito A, Lauro V, Tani G, Dòmini M (2001). "Antenatal diagnosis and early laparoscopic treatment of a rare variation of androgen-insensitivity syndrome". Eur J Pediatr Surg. 11 (6): 422–4. doi:10.1055/s-2001-19719. PMID 11807675.