Androgen insensitivity syndrome epidemiology and demographics: Difference between revisions
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==Overview== | ==Overview== | ||
CAIS has a prevalence of 2 to 5 per 100,000. The incidence of complete AIS is about in 5 in 100,000. There is no racial predilection for Androgen insensitivity syndrome. | CAIS (complete androgen insensitivity syndrome) has a prevalence of 2 to 5 per 100,000. The incidence of complete AIS is about in 5 in 100,000. There is no racial predilection for Androgen insensitivity syndrome. | ||
==Epidemiology and Demographic== | ==Epidemiology and Demographic== | ||
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===Prevalence=== | ===Prevalence=== | ||
*CAIS has a prevalence of 2 to 5 per 100,000 in otherwise healthy [[phenotypic]] females who had histologically normal inguinal or abdominal [[testes]]. | *CAIS (complete androgen insensitivity syndrome) has a prevalence of 2 to 5 per 100,000 in otherwise healthy [[phenotypic]] females who had histologically normal inguinal or abdominal [[testes]]. | ||
*PAIS is usually as common as CAIS. | *PAIS (partial androgen insensitivity syndrome) is usually as common as CAIS. | ||
*MAIS is much less frequently reported than CAIS and PAIS. | *MAIS (mild androgen insensitivity syndrome) is much less frequently reported than CAIS and PAIS. | ||
===Incidence=== | ===Incidence=== | ||
*The incidence of complete AIS is about in 5 in 100,000. The incidence of milder degrees of [[Androgen resistance syndrome|androgen resistance]] might be both more common or less common than CAIS. Evidence suggests many cases of unexplained male [[infertility]] may be due to the mildest forms of androgen resistance. <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> <ref name="pmid18760072">{{cite journal |vauthors=Hashmi A, Hanif F, Hanif SM, Abdullah FE, Shamim MS |title=Complete Androgen Insensitivity Syndrome |journal=J Coll Physicians Surg Pak |volume=18 |issue=7 |pages=442–4 |year=2008 |pmid=18760072 |doi=07.2008/JCPSP.442444 |url=}}</ref> | *The incidence of complete AIS is about in 5 in 100,000. The incidence of milder degrees of [[Androgen resistance syndrome|androgen resistance]] might be both more common or less common than CAIS. Evidence suggests many cases of unexplained male [[infertility]] may be due to the mildest forms of androgen resistance. <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> <ref name="pmid18760072">{{cite journal |vauthors=Hashmi A, Hanif F, Hanif SM, Abdullah FE, Shamim MS |title=Complete Androgen Insensitivity Syndrome |journal=J Coll Physicians Surg Pak |volume=18 |issue=7 |pages=442–4 |year=2008 |pmid=18760072 |doi=07.2008/JCPSP.442444 |url=}}</ref> | ||
*In | *In Netherlands, the minimal incidence was 1 per 99,000 over a ten-year period. | ||
===Gender=== | ===Gender=== | ||
*Androgen insensitivity syndrome (AIS) is typically characterized by evidence of [[feminization]] (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in [[puberty]], and [[infertility]] in individuals with a 46,XY karyotype. AIS represents a an array of defects in [[androgen]] action and can be subdivided into three broad [[phenotypes]]: <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) is typically characterized by evidence of [[feminization]] (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in [[puberty]], and [[infertility]] in individuals with a 46,XY karyotype. AIS represents a an array of defects in [[androgen]] action and can be subdivided into three broad [[phenotypes]]: <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> | ||
*Those with typical female external genitalia are classified as | *Those with typical female external genitalia are classified as complete androgen insensitivity syndrome (CAIS) | ||
*Those with predominantly female, predominantly male, or ambiguous external genitalia are classified as | *Those with predominantly female, predominantly male, or ambiguous external genitalia are classified as partial androgen insensitivity syndrome (PAIS) | ||
*Those with typical male external genitalia are classified as | *Those with typical male external genitalia are classified as mild androgen insensitivity syndrome (MAIS) | ||
===Race=== | ===Race=== | ||
*There is no racial predilection for | *There is no racial predilection for androgen insensitivity syndrome. | ||
===Developed Countries=== | ===Developed Countries=== | ||
Latest revision as of 15:33, 11 October 2017
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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
CAIS (complete androgen insensitivity syndrome) has a prevalence of 2 to 5 per 100,000. The incidence of complete AIS is about in 5 in 100,000. There is no racial predilection for Androgen insensitivity syndrome.
Epidemiology and Demographic
Prevalence
- CAIS (complete androgen insensitivity syndrome) has a prevalence of 2 to 5 per 100,000 in otherwise healthy phenotypic females who had histologically normal inguinal or abdominal testes.
- PAIS (partial androgen insensitivity syndrome) is usually as common as CAIS.
- MAIS (mild androgen insensitivity syndrome) is much less frequently reported than CAIS and PAIS.
Incidence
- The incidence of complete AIS is about in 5 in 100,000. The incidence of milder degrees of androgen resistance might be both more common or less common than CAIS. Evidence suggests many cases of unexplained male infertility may be due to the mildest forms of androgen resistance. [1] [2]
- In Netherlands, the minimal incidence was 1 per 99,000 over a ten-year period.
Gender
- Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a an array of defects in androgen action and can be subdivided into three broad phenotypes: [1]
- Those with typical female external genitalia are classified as complete androgen insensitivity syndrome (CAIS)
- Those with predominantly female, predominantly male, or ambiguous external genitalia are classified as partial androgen insensitivity syndrome (PAIS)
- Those with typical male external genitalia are classified as mild androgen insensitivity syndrome (MAIS)
Race
- There is no racial predilection for androgen insensitivity syndrome.
Developed Countries
- There have been no studies suggesting the difference in the occurrence of AIS in both developed and developing countries. Except for the establishment of two influential support groups, the AIS Support Group (which has branches in the UK, North America and Australia) and the Intersex Society of North America (ISNA). [3]
Developing Countries
- There have been no studies suggesting the difference in the occurrence of AIS in both developed and developing countries.
References
- ↑ 1.0 1.1 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
|title=(help) - ↑ Hashmi A, Hanif F, Hanif SM, Abdullah FE, Shamim MS (2008). "Complete Androgen Insensitivity Syndrome". J Coll Physicians Surg Pak. 18 (7): 442–4. doi:07.2008/JCPSP.442444 Check
|doi=value (help). PMID 18760072. - ↑ Warne GL, Zajac JD, MacLean HE (1998). "Androgen insensitivity syndrome in the era of molecular genetics and the Internet: a point of view". J Pediatr Endocrinol Metab. 11 (1): 3–9. PMID 9642623.