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Mild androgen insensitivity presenting with sexual dysfunction.

T F Cundy, M Rees, B A Evans

    Fertility and Sterility
    |October 1, 1986
    PubMed
    Summary
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    Adult-onset infertility and sexual dysfunction in men can indicate Androgen Insensitivity Syndrome (AIS). This study highlights PAIS presentation with normal androgen receptor function but impaired spermatogenesis, emphasizing diagnostic challenges.

    Area of Science:

    • Endocrinology
    • Reproductive Medicine
    • Genetics

    Background:

    • Androgen Insensitivity Syndrome (AIS) is a spectrum of disorders affecting male sexual development.
    • Partial Androgen Insensitivity Syndrome (PAIS) can present with varying degrees of virilization and fertility issues.

    Observation:

    • A patient presented with adult-onset sexual dysfunction and infertility, exhibiting elevated gonadotropins and testosterone (T) levels.
    • Phenotypic abnormalities were limited to small external genitalia; androgen receptor studies in genital skin fibroblasts were normal.
    • Testicular biopsy revealed profoundly impaired spermatogenesis despite appropriate T level response to hCG and CC stimulation.

    Findings:

    • This case illustrates that PAIS can manifest in adulthood with sexual dysfunction and infertility, even with a near-normal male phenotype.

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  • Normal androgen receptor function does not exclude PAIS, underscoring the heterogeneity of these disorders.
  • Impaired spermatogenesis can be a primary presenting symptom of PAIS.

    • Implications:

    • Adult-onset sexual dysfunction and infertility warrant investigation for PAIS, even with minimal phenotypic abnormalities.
    • Androgen receptor studies alone are insufficient for diagnosing all forms of PAIS.
    • Recognizing the heterogeneity of PAIS is crucial for accurate diagnosis and management of male reproductive health disorders.