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Clinical Trial
. 2017;87(3):170-178.
doi: 10.1159/000457952. Epub 2017 Mar 3.

Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome

Melinda J Pierce, Stephen H LaFranchi, Joseph D Pinter
Clinical Trial

Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome

Melinda J Pierce et al. Horm Res Paediatr. 2017.

Abstract

Background/aims: Thyroid disease is a common comorbidity in individuals with Down syndrome (DS), but historical studies have multiple limitations. We assessed thyroid abnormalities in a large cohort of children with DS.

Methods: Retrospective records review from a single institution. Calculated prevalence of common thyroid abnormalities and associations with common comorbidities.

Results: Among 508 patients, 120 (24%) had a thyroid-related diagnosis, the majority having elevated thyrotropin treated with levothyroxine. A Kaplan-Meier estimate projects that 50% have thyroid disorder by adulthood, with 20% of hypothyroidism diagnosed before the age of 6 months. When tested, approximately 50% had positive antithyroid antibodies, though this rate was 100% in overt hypothyroidism. There was no association between congenital or acquired hypothyroidism and common comorbidities.

Conclusion: Thyroid disease in DS is more common and occurs earlier than in the general population, and is often transient. Thyroid disease is unrelated to gender, obesity, or other comorbidities. Apart from overt hypothyroidism, much of hypothyroidism in DS appears unrelated to autoimmunity; we recommend checking of antithyroid antibodies only in select cases. An additional screen for thyroid disease between the newborn screen and the 6-month well-child visit will detect early cases of hypothyroidism who passed their newborn screen. .

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Conflict of interest statement

The authors have no financial relationships relevant to this article to disclose. The authors have no conflicts of interest to this article to disclose.

Figures

Figure 1
Figure 1
Kaplan-Meier curve showing prevalence of any type of thyroid disease in pediatric Down syndrome population.
See this image and copyright information in PMC

References

    1. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A, National Birth Defects Prevention N Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008–1016. - PubMed
    1. Claret C, Goday A, Benaiges D, Chillaron JJ, Flores JA, Hernandez E, Corretger JM, Cano JF. Subclinical hypothyroidism in the first years of life in patients with Down syndrome. Pediatr Res. 2013;73:674–678. - PubMed
    1. Cutler AT, Benezra-Obeiter R, Brink SJ. Thyroid function in young children with Down syndrome. Am J Dis Child. 1986;140:479–483. - PubMed
    1. Dinani S, Carpenter S. Down’s syndrome and thyroid disorder. J Ment Defic Res. 1990;34(Pt 2):187–193. - PubMed
    1. Gibson PA, Newton RW, Selby K, Price DA, Leyland K, Addison GM. Longitudinal study of thyroid function in Down’s syndrome in the first two decades. Arch Dis Child. 2005;90:574–578. - PMC - PubMed

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