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Thyroid function in young children with Down syndrome
Insights
Children with Down syndrome frequently experience transient thyroid-stimulating hormone (TSH) elevations, necessitating routine thyroid function tests (TFTs). Early screening for hypothyroidism in this population is crucial for timely intervention.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Down syndrome is associated with an increased risk of thyroid dysfunction.
- Hypothyroidism screening is standard in infants with Down syndrome due to potential developmental impacts.
Purpose of the Study:
- To evaluate thyroid function test (TFT) patterns in young children with Down syndrome.
- To compare TFTs in Down syndrome patients with age-matched controls.
- To determine the prevalence and nature of thyroid abnormalities in this cohort.
Main Methods:
- Retrospective review of TFTs in 49 children with Down syndrome (4 months to 3 years).
- Comparison with age-matched controls undergoing screening for hypothyroidism.
- Analysis of congenital hypothyroidism, thyroiditis, TSH, and thyroxine levels.
Main Results:
- Three children (6%) had congenital hypothyroidism, with associated gastrointestinal anomalies in all three.
- Twenty-seven percent showed mildly elevated TSH with normal thyroxine levels.
- Transient TSH elevations were common, irrespective of initial TSH values.
Conclusions:
- Routine neonatal and sequential thyroid screening is essential for young children with Down syndrome.
- Transient TSH elevations are a common finding in this group.
- Early detection of thyroid dysfunction is critical for managing developmental outcomes.
Abstract:
A retrospective review of thyroid function tests (TFTs) was performed on 49 young children (aged 4 months to 3 years) with Down syndrome compared with age-matched controls screened for hypothyroidism because of developmental delay or failure to thrive. Three of the 49 children with Down syndrome had congenital hypothyroidism; of the three, one had Hirschsprung's disease and two had duodenal atresia. Thyroiditis was uncommon, with only two children having thyroid antibodies present: one had acquired hypothyroidism and the other acquired hyperthyroidism. Twenty-seven percent of the Down syndrome cohort had mildly increased thyrotropin (TSH) and normal thyroxine levels. When compared with children with Down syndrome who had normal TFTs, no significant differences in sex, growth rate, maternal age, associated anomalies, developmental or specific thyroid symptoms were present. Transient elevations of TSH level were common in children with Down syndrome whether or not TSH values were initially normal or elevated. Routine neonatal and sequential thyroid screening in young children with Down syndrome is warranted.