Androgen insensitivity syndrome physical examination: Difference between revisions
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* Phallus is smaller than a typical penis but larger than a typical clitoris. The labioscrotal folds are almost but not completely fused in the midline of the perineum, producing a small perineal pouch termed a "pseudovagina". Instead of being on the tip of the phallus, the urethra remains in this pseudovagina of the perineum (a position termed a 3rd degree [[hypospadias]]). The labioscrotal skin flanking the pseudovagina remains less prominent than labia but less thinned, rugated, and fused than a scrotum. The testes usually remain in the abdomen but occasionally can be felt in the inguinal canal. This genital configuration has traditionally been referred to as a ''pseudovaginal perineoscrotal hypospadias'' (PPSH) and can occur in other [[intersex]] conditions. - in Reifenstein syndrome. | * Phallus is smaller than a typical penis but larger than a typical clitoris. The labioscrotal folds are almost but not completely fused in the midline of the perineum, producing a small perineal pouch termed a "pseudovagina". Instead of being on the tip of the phallus, the urethra remains in this pseudovagina of the perineum (a position termed a 3rd degree [[hypospadias]]). The labioscrotal skin flanking the pseudovagina remains less prominent than labia but less thinned, rugated, and fused than a scrotum. The testes usually remain in the abdomen but occasionally can be felt in the inguinal canal. This genital configuration has traditionally been referred to as a ''pseudovaginal perineoscrotal hypospadias'' (PPSH) and can occur in other [[intersex]] conditions. - in Reifenstein syndrome. | ||
*Variants of Reifenstein syndrome occur with greater or less androgen sensitivity and correspondingly more or less genital masculinization. The common feature is that they have enough ambiguity that they are not simply assumed to be normal female infants, as is usual in CAIS and PAIS. | *Variants of Reifenstein syndrome occur with greater or less androgen sensitivity and correspondingly more or less genital masculinization. The common feature is that they have enough ambiguity that they are not simply assumed to be normal female infants, as is usual in CAIS and PAIS. | ||
{| 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'''}} | |||
|+ | |||
! style="background: #4479BA; padding: 5px 5px;" rowspan=1 | {{fontcolor|#FFFFFF|Type}} | |||
! style="background: #4479BA; padding: 5px 5px;" rowspan=1 | {{fontcolor|#FFFFFF|External Genitalia}} | |||
! style="background: #4479BA; padding: 5px 5px;" colspan=1 | {{fontcolor|#FFFFFF|Findings}} | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold;" rowspan="2;" | 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. | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold;" rowspan="2;" | 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. | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold;" rowspan="1;" | 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== |
Revision as of 13:34, 12 July 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) 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.
Physical Examination
Following physical examination findings are observed: [1]
- Absence of extragenital abnormalities.
- Two nondysplastic testes.
- Absent or rudimentary müllerian structures (i.e., fallopian tubes, uterus, and cervix) and the presence of a short vagina.
- Undermasculinization of the external genitalia at birth.
- Impaired spermatogenesis and/or somatic virilization (some degree of impaired virilization at puberty).
- CAIS presents typically as primary amenorrhoea in an adolescent female and less commonly in infancy with bilateral inguinal/labial swellings due to testes.[2]
- Mild differences in the genital structure is found in partial androgen insensitivity syndrome (PAIS).
- Phallus is smaller than a typical penis but larger than a typical clitoris. The labioscrotal folds are almost but not completely fused in the midline of the perineum, producing a small perineal pouch termed a "pseudovagina". Instead of being on the tip of the phallus, the urethra remains in this pseudovagina of the perineum (a position termed a 3rd degree hypospadias). The labioscrotal skin flanking the pseudovagina remains less prominent than labia but less thinned, rugated, and fused than a scrotum. The testes usually remain in the abdomen but occasionally can be felt in the inguinal canal. This genital configuration has traditionally been referred to as a pseudovaginal perineoscrotal hypospadias (PPSH) and can occur in other intersex conditions. - in Reifenstein syndrome.
- Variants of Reifenstein syndrome occur with greater or less androgen sensitivity and correspondingly more or less genital masculinization. The common feature is that they have enough ambiguity that they are not simply assumed to be normal female infants, as is usual in CAIS and PAIS.
Classification of Androgen Insensitivity Syndrome Phenotypes | ||
Type | External Genitalia | Findings |
---|---|---|
CAIS - (Complete androgen insensitivity syndrome) | Female (“testicular feminization”) |
|
Predominantly female (“incomplete AIS”) |
| |
PAIS - (Partial androgen insensitivity syndrome) | Ambiguous |
|
Predominantly male |
| |
MAIS - (Mild androgen insensitivity syndrome) | Male (“undervirilized male syndrome”) |
|
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
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(help) - ↑ 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.