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

Sheena McGowan, Jeremy Jones, Donald McMillan, Kirsty McLaughlin, Sarah Smith, Kath Leyland, Patricia Charleton, Malcolm Donaldson (Lead / Corresponding author), on behalf of the Scottish Down Syndrome Screening Group

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    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 schoolaged children with borderline capillary TSH elevation. Further data are needed before this approach can be recommended for preschool children.

    Original languageEnglish
    Pages (from-to)1013-1017.e2
    Number of pages4
    JournalJournal of Pediatrics
    Volume166
    Issue number4
    DOIs
    Publication statusPublished - Apr 2015

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    McGowan, S., Jones, J., McMillan, D., McLaughlin, K., Smith, S., Leyland, K., Charleton, P., Donaldson, M., & on behalf of the Scottish Down Syndrome Screening Group (2015). Screening for hypothyroidism in down syndrome using the capillary thyroid stimulating hormone method. Journal of Pediatrics, 166(4), 1013-1017.e2. https://doi.org/10.1016/j.jpeds.2014.12.035