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Gonadal function in patients with Down syndrome.

Y H Hsiang, G D Berkovitz, G L Bland

    American Journal of Medical Genetics
    |June 1, 1987
    PubMed
    Summary
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    Down syndrome (DS) is linked to progressive primary gonadal deficiency from birth through adolescence. This study found reduced testicular size and elevated gonadotropins in adult men with DS, indicating partial gonadal deficiency.

    Area of Science:

    • Endocrinology
    • Genetics
    • Reproductive Health

    Background:

    • Down syndrome (DS) is a genetic disorder associated with various health complications.
    • Gonadal function in individuals with DS requires further investigation, particularly regarding progressive changes throughout development.

    Purpose of the Study:

    • To evaluate gonadal function in a cohort of individuals with Down syndrome.
    • To determine the prevalence and progression of gonadal dysfunction in DS from infancy to adulthood.

    Main Methods:

    • Assessed gonadal function in 100 individuals with DS (53 males, 47 females).
    • Excluded subjects with abnormal thyroid function from endocrine analysis.
    • Measured hormone levels including follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (T).

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  • Compared physical measurements such as penile length and testicular volume to normative data.

    • Main Results:

    • Adult men with DS exhibited significantly reduced mean stretched penile length and testicular volume compared to controls.
    • Elevated serum FSH and LH levels with normal testosterone levels in adult men with DS suggest partial gonadal deficiency.
    • Primary gonadal dysfunction was observed in 6 out of 14 women.
    • Abnormal FSH and LH levels were noted in prepubertal children and infants with DS, indicating early onset of dysfunction.

    Conclusions:

    • Primary gonadal deficiency is common and progressive in individuals with Down syndrome.
    • The deficiency manifests from birth, worsens through adolescence, and is clearly evident in adult patients.
    • These findings highlight the need for monitoring and potential interventions for gonadal health in DS.