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Lower neonatal screening thyroxine concentrations in down syndrome newborns
A S P van Trotsenburg1, T Vulsma, H M van Santen
1Department of Pediatric Endocrinology, Emma Children's Hospital AMC, 1105 AZ Amsterdam, The Netherlands. a.s.vantrotsenburg@amc.uva.nl
The Journal of Clinical Endocrinology and Metabolism
|April 8, 2003
Summary
Newborns with Down syndrome (DS) exhibit lower thyroxine (T4) levels and elevated thyroid-stimulating hormone (TSH), indicating a potential DS-specific thyroid disorder. This finding may impact brain development in infants with Down syndrome.
Area of Science:
- Endocrinology
- Genetics
- Neonatal Health
Background:
- Congenital hypothyroidism (CH) is detected at higher rates in newborns with Down syndrome (DS).
- Young children with DS show a high prevalence of elevated plasma thyroid-stimulating hormone (TSH).
Purpose of the Study:
- To investigate whether newborns with Down syndrome (DS) have reduced blood thyroxine (T4) concentrations during neonatal screening.
- To explore the potential existence of a DS-specific thyroid regulation disorder.
Main Methods:
- An observational study analyzed CH screening results (T4, TSH, T4-binding globulin) in a large cohort of Dutch newborns with DS (n=284).
- Data were compared with clinical information, the general newborn population, and a control group.
Main Results:
- Newborns with DS had significantly decreased mean T4 concentrations, with a left-shifted normal distribution.
- Mean TSH concentrations were significantly increased, while T4-binding globulin levels were normal.
- The observed thyroid function changes could not be attributed to prematurity, nonthyroidal illness, or iodine exposure.
Conclusions:
- The findings suggest a mild hypothyroid state in newborns with DS.
- This supports the hypothesis of a Down syndrome-specific thyroid (regulation) disorder.
- Further research is needed to determine if this condition contributes to brain maldevelopment in DS.