Androgen insensitivity syndrome physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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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).
  • 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.

References

  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)

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