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:

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History and Symptoms

The diagnosis of AIS is established in a 46,XY proband by the following:

• 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 AR by molecular genetic testing.

Most cases of CAIS are diagnosed in the following circumstances:

1. Abdominal surgery done for repair of inguinal hernia, appendicitis or other reason discovers testes or lack of uterus and ovaries. Even in the absence of a visible inguinal lump, perhaps 1% of girls operated on for inguinal hernia are found to have AIS.
2. The girl or family seeks evaluation for delayed menarche (primary amenorrhea).
3. The woman seeks explanation for difficulty with sexual intercourse.
4. The woman seeks explanation for infertility.

• Circumstances of diagosis 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

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