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Abnormalities of thyroid function in infants with Down syndrome
Insights
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.
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.
- 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.
Abstract:
We describe 12 of 1130 infants with Down syndrome in whom various degrees of thyroid dysfunction were detected by neonatal screening. These aberrations were confirmed subsequently in 11 patients. In eight of 11 children, persistent primary hypothyroidism, was diagnosed, whereas in the remaining three patients transient thyroid abnormalities were noted. The twelfth patient died and could not be retested. We found an incidence of persistent primary congenital hypothyroidism in infants with Down syndrome of 1:141, or about 28 times more than in the general population. The cause of thyroid aberrations in these infants remains unclear; none of the studied patients had agenesis or ectopia of the thyroid gland. On initial screening most infants with Down syndrome had only mild biochemical abnormalities, with gradual decompensation occurring thereafter. Infants with Down syndrome are therefore at high risk for congenital hypothyroidism and should have careful follow-up to prevent further deterioration of their mental development or growth.