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Endemic cretinism in Sicily

S Squatrito, F Delange, F Trimarchi

    Journal of Endocrinological Investigation
    |July 1, 1981
    PubMed
    Summary
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    Endemic cretinism, characterized by severe mental retardation, was identified in Sicily. This finding strongly supports the urgent need for iodine prophylaxis to prevent thyroid deficiency disorders.

    Area of Science:

    • Endocrinology
    • Neurology
    • Public Health

    Background:

    • Endemic goiter areas are known to be at risk for thyroid deficiency disorders.
    • Cretinism, a condition of severe mental and physical retardation, is associated with iodine deficiency.

    Purpose of the Study:

    • To report the presence of endemic cretinism in a district of north-eastern Sicily.
    • To investigate clinical and biochemical characteristics of affected individuals.
    • To advocate for iodine prophylaxis in the region.

    Main Methods:

    • Study included 19 individuals with severe mental retardation.
    • Clinical examination for signs of hypothyroidism and neurological deficits.
    • Biochemical assessment including urinary iodine excretion.

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  • No systematic population survey was conducted.

    • Main Results:

    • All 19 subjects exhibited marked mental retardation.
    • Nine individuals presented with hypothyroidism (myxedematous cretins).
    • Ten individuals showed neurological cretinism (deaf-mutism and/or pyramidal tract dysfunction).
    • Low urinary iodine excretion was observed in all cretin subjects and controls.

    Conclusions:

    • Endemic cretinism is present in Sicily, manifesting as both myxedematous and neurological forms.
    • The findings suggest early-life thyroid failure, despite unclear pathogenesis.
    • Immediate iodine prophylaxis is recommended to address this public health issue.