Androgen insensitivity syndrome history and symptoms

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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

The diagnosis of AIS (androgen insensitivity syndrome) is determined in a 46XY individual by the undermasculinization of the external genitalia, impaired spermatogenesis and absent or rudimentary müllerian structures. Cases of CAIS (complete androgen insensitivity syndrome) are diagnosed during abdominal surgery, delayed menarche and infertility.

History and Symptoms

The diagnosis of AIS (androgen insensitivity syndrome) is established in a 46XY proband by the following:[1]

Most cases of CAIS (complete androgen insensitivity syndrome) are diagnosed in the following circumstances:

  • While performing abdominal surgery done for repair of inguinal hernia, appendicitis or for any other procedure, testes are discovered or the lack of uterus and ovaries are observed. Even in the absence of a visible inguinal lump, approximately 1% of the girls operated on for inguinal hernia are observed to have AIS.
  • The girl or family seeks explanation for delayed menarche (primary amenorrhea).
  • The woman seeks explanation for difficulty or pain associated with sexual intercourse.
  • The woman seeks explanation for infertility.
  • Circumstances of diagnosis of partial androgen insensitivity syndrome (PAIS) tend to be similar to those listed for CAIS, with the additional possibility that the mild differences of genital structure may elicit evaluation.

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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