Androgen insensitivity syndrome epidemiology and demographics: Difference between revisions
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*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 spectrum 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 spectrum 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> | ||
**Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia | **Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia | ||
**Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia | **Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia | ||
Revision as of 20:30, 12 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Epidemiology and Demographic
Prevalence
- CAIS has aprevalence of 2 per100,000 to 5 per100,000 in otherwise healthy phenotypic females who had histologically normal inguinal or abdominal testes.
- PAIS is at least as common as CAIS.
- MAIS 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.
- 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 spectrum of defects in androgen action and can be subdivided into three broad phenotypes: [1]
- Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia
- Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia
- Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia
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). [2]
Developing Countries
- There have been no studies suggesting the difference in the occurrence of AIS in both developed and developing countries.
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) - ↑ 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.