Androgen insensitivity syndrome history and symptoms: Difference between revisions
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==Overview== | ==Overview== | ||
The diagnosis of AIS is determined in a 46XY individual by the undermasculinization of the external genitalia, impaired [[spermatogenesis]] and absent or rudimentary [[Müllerian duct|müllerian]] structures. Cases of CAIS are diagnosed during abdominal surgery, delayed [[menarche]] and [[infertility]]. | 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 duct|müllerian]] structures. Cases of CAIS (complete androgen insensitivity syndrome) are diagnosed during abdominal surgery, delayed [[menarche]] and [[infertility]]. | ||
==History and Symptoms== | ==History and Symptoms== | ||
The diagnosis of AIS is established in a 46XY proband by the following:<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> | The diagnosis of AIS (androgen insensitivity syndrome) is established in a 46XY proband by the following:<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> | ||
*Undermasculinization of the external genitalia | *Undermasculinization of the external genitalia | ||
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*Normal or increased [[Luteinizing hormone|LH]] production by the [[pituitary gland]]; AND/OR by the identification of a [[hemizygous]] pathogenic variant in [[androgen receptor]] (AR) by molecular genetic testing. | *Normal or increased [[Luteinizing hormone|LH]] production by the [[pituitary gland]]; AND/OR by the identification of a [[hemizygous]] pathogenic variant in [[androgen receptor]] (AR) by molecular genetic testing. | ||
Most cases of CAIS are diagnosed in the following circumstances: | 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. | *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 girl or family seeks explanation for delayed [[menarche]] (primary [[amenorrhea]]). | ||
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*The woman seeks explanation for [[infertility]]. | *The woman seeks explanation for [[infertility]]. | ||
* Circumstances of diagnosis of | * 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== | ==References== | ||
Latest revision as of 16:25, 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
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]
- Undermasculinization of the external genitalia
- Impaired spermatogenesis with otherwise normal testes
- Absent or rudimentary müllerian structures
- Evidence of normal or increased synthesis of testosterone and its normal conversion to dihydrotestosterone
- Normal or increased LH production by the pituitary gland; AND/OR by the identification of a hemizygous pathogenic variant in androgen receptor (AR) by molecular genetic testing.
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.