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Related Experiment Videos

Abnormalities of thyroid function in infants with Down syndrome.

P Fort, F Lifshitz, R Bellisario

    The Journal of Pediatrics
    |April 1, 1984
    PubMed
    Summary

    Infants with Down syndrome have a significantly higher risk of congenital hypothyroidism. Neonatal screening is crucial for early detection and management to prevent developmental issues.

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    Area of Science:

    • Endocrinology
    • Genetics
    • Neonatal Medicine

    Background:

    • Down syndrome is associated with various health complications.
    • Thyroid dysfunction is a known concern in infants with Down syndrome.

    Purpose of the Study:

    • To determine the incidence of thyroid dysfunction in infants with Down syndrome.
    • To highlight the importance of neonatal screening for thyroid abnormalities in this population.

    Main Methods:

    • Neonatal screening of 1130 infants with Down syndrome.
    • Confirmation of thyroid dysfunction in affected infants.
    • Follow-up assessment of thyroid function.

    Main Results:

    • 12 out of 1130 infants showed thyroid dysfunction on screening.

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  • Persistent primary congenital hypothyroidism was diagnosed in 8 infants.
  • The incidence of persistent primary congenital hypothyroidism in infants with Down syndrome was 1:141, approximately 28 times higher than in the general population.

    • Conclusions:

    • Infants with Down syndrome are at high risk for congenital hypothyroidism.
    • Early detection through neonatal screening and careful follow-up are essential.
    • Preventing thyroid dysfunction can mitigate negative impacts on growth and mental development.