Screening for hypothyroidism in Down syndrome using the capillary thyroid stimulating hormone method

J Pediatr. 2015 Apr;166(4):1013-1017.e2. doi: 10.1016/j.jpeds.2014.12.035. Epub 2015 Jan 31.

Abstract

Objectives: To analyze data from the Scottish capillary thyroid stimulating hormone (TSH) screening program for hypothyroidism in Down syndrome to identify a threshold for capillary TSH elevation below which low venous free thyroxine (fT4) (<9 pmol/L) and/or frank venous TSH elevation (>10 mU/L) range is unlikely.

Study design: Review of proformas prospectively submitted on all children with Down syndrome referred via the screening program between 2003 and 2013.

Results: Ninety-nine patients with Down syndrome (50 females, 49 males) were identified, 76 school-age (≥ 5 years) and 23 preschool (<5 years), mean (range) age at referral 9.4 (0.9-18.1) years. Pearson correlation between capillary TSH and venous TSH was 0.814; between capillary TSH and venous fT4 -0.522 (P = .01). Receiver operator curve analysis showed that capillary TSH values of 4 and 6 mU/L were 95.9% and 73.5% sensitive, 5.8% and 80.8% specific, respectively, in predicting venous TSH >10 mU/L. Fifty-three children had capillary TSH values of 4-5.9 mU/L of whom only one, a boy of 15.8 years, had subnormal venous fT4 (<9 pmol/L), and venous TSH >10 mU/L was found in 13 (4 preschool).

Conclusions: Venous fT4 is normal in almost all patients with Down syndrome with capillary TSH 4-6 mU/L. We propose an algorithm incorporating rescreening by finger prick after 6 months, rather than venepuncture, in school-aged children with borderline capillary TSH elevation. Further data are needed before this approach can be recommended for preschool children.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Down Syndrome / complications*
  • Down Syndrome / diagnosis
  • Down Syndrome / epidemiology
  • Female
  • Follow-Up Studies
  • Humans
  • Hypothyroidism / diagnosis*
  • Hypothyroidism / epidemiology
  • Hypothyroidism / etiology
  • Incidence
  • Infant
  • Infant, Newborn
  • Male
  • Neonatal Screening / methods*
  • Prevalence
  • Retrospective Studies
  • Scotland / epidemiology
  • Thyroid Function Tests / methods*
  • Thyrotropin / blood*

Substances

  • Thyrotropin