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{{Androgen insensitivity syndrome}}
{{Androgen insensitivity syndrome}}
 
{{CMG}}; {{AE}} {{ARK}}
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==Overview==
==Overview==
Androgen insensitivity syndrome (AIS) represents a spectrum of defects in [[androgen]] action and can be subdivided into three broad [[phenotypes]] into complete androgen insensitivity syndrome (CAIS), mild androgen insensitivity syndrome (MAIS) and partial androgen insensitivity syndrome (PAIS).


==Classification==
==Classification==
Although many distinct [[mutation]]s have been discovered, the clinical manifestations of androgen insensitivity syndrome have been divided into six [[phenotype]]s, which roughly correspond to increasing amounts of androgen effect due to increasing tissue responsiveness. It should be emphasized that the disorders of androgen sensitivity represent a spectrum rather than 6 discrete diseases, and some affected persons will have features that fall between the phenotypes described.
*Based on the degree of genital masculinization, androgen insensitivity syndrome is divided into three categories:<ref name="pmid25395750">{{cite journal |vauthors=Bhaskararao G, Himabindu Y, Nayak SR, Sriharibabu M |title=Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome |journal=J Hum Reprod Sci |volume=7 |issue=3 |pages=221–3 |year=2014 |pmid=25395750 |pmc=4229800 |doi=10.4103/0974-1208.142498 |url=}}</ref><ref name="pmid19507547">{{cite journal |vauthors=Ohba K, Hayashida Y, Hakariya H, Ichinose S, Naitou S |title=[Case of complete androgen insensitivity syndrome] |language=Japanese |journal=Hinyokika Kiyo |volume=55 |issue=5 |pages=277–80 |year=2009 |pmid=19507547 |doi= |url=}}</ref><ref name="pmid19064222">{{cite journal |vauthors=Oakes MB, Eyvazzadeh AD, Quint E, Smith YR |title=Complete androgen insensitivity syndrome--a review |journal=J Pediatr Adolesc Gynecol |volume=21 |issue=6 |pages=305–10 |year=2008 |pmid=19064222 |doi=10.1016/j.jpag.2007.09.006 |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>
 
1. '''Complete AIS''' (CAIS): completely female body except no [[uterus]], [[fallopian tubes]] or [[ovaries]]; testes in the abdomen; minimal androgenic (pubic or axillary) hair at puberty. OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=300068 300068].
 
2. ''' Partial or incomplete AIS''' (PAIS): female body, with slightly virilized genitalia; testes in the abdomen; sparse to normal androgenic hair. Variant of OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=300068 300068].


3. '''Reifenstein syndrome''': obviously ambiguous genitalia; small testes may be in abdomen or scrotum; sparse to normal androgenic hair; [[gynecomastia]] at puberty. OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=312300 312300].
:*When the [[external genitalia]] is that of a normal [[female]] it is classified as complete androgen insensitivity syndrome (CAIS)
:*When the [[external genitalia]] is that of a normal [[male]] it is classified as mild androgen insensitivity syndrome (MAIS)
:*When the [[external genitalia]] is partially, but not fully masculinized it is classified as partial androgen insensitivity syndrome (PAIS)


4. '''Infertile male syndrome''': normal male body internally and externally; normal virilization and androgenic hair; reduced [[Spermatozoon|sperm]] production; reduced fertility. OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=308370 308370].
*Individuals with both partial androgen insensitivity syndrome (PAIS) and complete androgen insensitivity syndrome (CAIS) have 46 XY karyotypes. <ref name="pmid25395750">{{cite journal |vauthors=Bhaskararao G, Himabindu Y, Nayak SR, Sriharibabu M |title=Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome |journal=J Hum Reprod Sci |volume=7 |issue=3 |pages=221–3 |year=2014 |pmid=25395750 |pmc=4229800 |doi=10.4103/0974-1208.142498 |url=}}</ref>


5. '''Undervirilized fertile male syndrome''': male internal and external genitalia with small penis; testes in scrotum; normal androgenic hair; sperm count and fertility normal or reduced. Variant of OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=312300 312300].
'''Classification of Androgen Insensitivity Syndrome 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>


6. '''X-linked spinal and bulbar muscular atrophy''': normal or nearly normal male body and fertility; exaggerated adolescent gynecomastia; adult onset degenerative muscle disease. OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=313200 313200].
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
| colspan="3" style="background: #4479BA; text-align: center;" | {{fontcolor|#FFF|'''Classification of Androgen Insensitivity Syndrome Phenotypes'''}}
|+
! rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Type}}
! rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|External Genitalia}}
! colspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Findings}}
|-
| rowspan="2;" style="padding: 5px 5px; background: #DCDCDC; font-weight: bold;" | CAIS - (Complete androgen insensitivity syndrome)
| style="padding: 5px 5px; background: #F5F5F5;" | Female (“testicular feminization”)
| style="padding: 5px 5px; background: #F5F5F5;" |
*Absent OR rudimentary wolffian duct derivatives.
*Absence or presence of epididymides and/or vas deferens.
*Inguinal, labial, or abdominal testes.
*Short blind-ending vagina.
*Scant OR absent pubic AND/OR axillary hair.
|-
| style="padding: 5px 5px; background: #F5F5F5;" | Predominantly female (“incomplete AIS”)
| style="padding: 5px 5px; background: #F5F5F5;" |
*Inguinal OR labial testes.
*Clitoromegaly and labial fusion.
*Distinct urethral and vaginal openings OR a urogenital sinus.
|-
| rowspan="2;" style="padding: 5px 5px; background: #DCDCDC; font-weight: bold;" | PAIS - (Partial androgen insensitivity syndrome)
| style="padding: 5px 5px; background: #F5F5F5;" | Ambiguous
| style="padding: 5px 5px; background: #F5F5F5;" |
*Microphallus (<1 cm) with clitoris-like underdeveloped glans; labia majora-like bifid scrotum.
*Descended OR undescended testes.
*Perineoscrotal hypospadias OR urogenital sinus.
*Gynecomastia (development of breasts) in puberty.
|-
| style="padding: 5px 5px; background: #F5F5F5;" | Predominantly male
| style="padding: 5px 5px; background: #F5F5F5;" |
*Simple (glandular or penile) OR severe (perineal) “isolated” hypospadias with a normal-sized penis and descended testes OR severe hypospadias with micropenis, bifid scrotum, and either descended OR undescended testes.
*Gynecomastia in puberty.
|-
| rowspan="1;" style="padding: 5px 5px; background: #DCDCDC; font-weight: bold;" | MAIS - (Mild androgen insensitivity syndrome)
| style="padding: 5px 5px; background: #F5F5F5;" | Male (“undervirilized male syndrome”)
| style="padding: 5px 5px; background: #F5F5F5;" |
*Impaired spermatogenesis AND/OR impaired pubertal virilization.
*Gynecomastia in puberty.
|-
|}


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Genetic disorders]]
 
[[Category:Intersexuality]]
[[Category:Syndromes]]
[[Category:Genetic Disease]]
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Mature chapter]]


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Latest revision as of 14:27, 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

Androgen insensitivity syndrome (AIS) represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes into complete androgen insensitivity syndrome (CAIS), mild androgen insensitivity syndrome (MAIS) and partial androgen insensitivity syndrome (PAIS).

Classification

  • Based on the degree of genital masculinization, androgen insensitivity syndrome is divided into three categories:[1][2][3][4]
  • When the external genitalia is that of a normal female it is classified as complete androgen insensitivity syndrome (CAIS)
  • When the external genitalia is that of a normal male it is classified as mild androgen insensitivity syndrome (MAIS)
  • When the external genitalia is partially, but not fully masculinized it is classified as partial androgen insensitivity syndrome (PAIS)
  • Individuals with both partial androgen insensitivity syndrome (PAIS) and complete androgen insensitivity syndrome (CAIS) have 46 XY karyotypes. [1]

Classification of Androgen Insensitivity Syndrome Phenotypes:' [5]

Classification of Androgen Insensitivity Syndrome Phenotypes
Type External Genitalia Findings
CAIS - (Complete androgen insensitivity syndrome) Female (“testicular feminization”)
  • Absent OR rudimentary wolffian duct derivatives.
  • Absence or presence of epididymides and/or vas deferens.
  • Inguinal, labial, or abdominal testes.
  • Short blind-ending vagina.
  • Scant OR absent pubic AND/OR axillary hair.
Predominantly female (“incomplete AIS”)
  • Inguinal OR labial testes.
  • Clitoromegaly and labial fusion.
  • Distinct urethral and vaginal openings OR a urogenital sinus.
PAIS - (Partial androgen insensitivity syndrome) Ambiguous
  • Microphallus (<1 cm) with clitoris-like underdeveloped glans; labia majora-like bifid scrotum.
  • Descended OR undescended testes.
  • Perineoscrotal hypospadias OR urogenital sinus.
  • Gynecomastia (development of breasts) in puberty.
Predominantly male
  • Simple (glandular or penile) OR severe (perineal) “isolated” hypospadias with a normal-sized penis and descended testes OR severe hypospadias with micropenis, bifid scrotum, and either descended OR undescended testes.
  • Gynecomastia in puberty.
MAIS - (Mild androgen insensitivity syndrome) Male (“undervirilized male syndrome”)
  • Impaired spermatogenesis AND/OR impaired pubertal virilization.
  • Gynecomastia in puberty.

References

  1. ↑ 1.0 1.1 Bhaskararao G, Himabindu Y, Nayak SR, Sriharibabu M (2014). "Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome". J Hum Reprod Sci. 7 (3): 221–3. doi:10.4103/0974-1208.142498. PMC 4229800. PMID 25395750.
  2. ↑ Ohba K, Hayashida Y, Hakariya H, Ichinose S, Naitou S (2009). "[Case of complete androgen insensitivity syndrome]". Hinyokika Kiyo (in Japanese). 55 (5): 277–80. PMID 19507547.
  3. ↑ Oakes MB, Eyvazzadeh AD, Quint E, Smith YR (2008). "Complete androgen insensitivity syndrome--a review". J Pediatr Adolesc Gynecol. 21 (6): 305–10. doi:10.1016/j.jpag.2007.09.006. PMID 19064222.
  4. ↑ 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.
  5. ↑ 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)

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