Thyroid Function Tests in Children and Adolescents With Trisomy 21: Definition of Syndrome-Specific Reference Ranges
Authors' conclusion
By longitudinally assessing TFT in a wide pediatric DS population, we outlined the syndrome-specific reference nomograms for TSH, FT3, and FT4 and demonstrated a persistent upward shift of TSH compared to non-syndromic children.
Study context
- Population
- Pediatric patients with Down syndrome (DS) (0–18 years) assessed 1992–2022; excluded: abnormal thyroid anatomy, treatments affecting thyroid function tests (TFT), positive thyroid autoantibodies
- Participants
- 548 patients
- Exposure
- Children with DS vs non-syndromic controls
- DSn = 548
- Outcome
- Age-dependent distribution of TFT (TSH, FT3, FT4) in pediatric DS
Methodological detailsmonocentric, observational, longitudinal
- Monocentric
- Observational
- Longitudinal
Main finding
As reported in the abstract
Age-dependent TSH, FT3 and FT4 distribution vs non-syndromic patients
- Age-dependent distribution of TSH, FT3 and FT4 determined; DS-specific nomograms outlined
- DS vs Controls: P < 0.001
- DS vs Controls: P < 0.001
Observational data: associations, not effects.
Further findings
Intraindividual TSH variability: agreement between TSH centile classes at 2 sequential assessments
- Poor agreement; remarkable TSH fluctuation over time
- 23%-53%
TSH >75th centile predicting future overt hypothyroidism
- NPV
- 0.91
- PPV
- 0.15
- 75th centile threshold with best statistical accuracy
Original publication
Thyroid Function Tests in Children and Adolescents With Trisomy 21: Definition of Syndrome-Specific Reference Ranges. J Clin Endocrinol Metab. Published 3 June 2023. doi:10.
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