Androgen insensitivity syndrome history and symptoms

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.

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.

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