Abstract
Patients with subclinical thyroid disease have few or no clinical symptoms of thyroid dysfunction and thus, laboratory diagnosis is needed. In this context, the objective of the current study was to analyze the prevalence rate and pattern of thyroid function in children with Down syndrome in the Polish population. A total of 30 children, aged 6-12 years, with cytogenetically confirmed Down syndrome were studied. The control group included 27 children. Of the 30 patients with Down syndrome, 14 (46.7%) had abnormal thyroid profiles. Mean thyroid-stimulating hormone (TSH) and fT4 concentrations in children with Down syndrome were found to be significantly increased compared with the controls (4.30 ± 1.9 µIU/mL, 95% CI: 3.55-5.04 µIU/mL vs. 3.10 ± 1.47 µIU/mL, 95% CI: 2.52-3.68 µIU/mL, P = 0.013, 95% CI: 0.26-2.14, and 1.33 ± 0.23 ng/dL, 95% CI: 1.25-1.42 vs. 1.19 ± 0.14 ng/dL, 95% CI: 1.13-1.25, P = 0.008, 95% CI: 0.04-0.24, respectively). In Down syndrome, subclinical hypothyroidism was recognized in 10 children (33.3%) (high TSH and normal fT4 and fT3 levels). Two children (6.67%) had evident hypothyroidism (high TSH and low fT4). In the control group, subclinical hypothyroidism was diagnosed in four (14.8%) children. Children with Down syndrome may have increased secretion of TSH, even when thyroid hormone and autoantibodies are normal, suggesting that an isolated increase in TSH does not predispose the patient to the development of thyroid disease. We also recommend that all patients with Down syndrome should be screened for thyroid dysgenesis, since they have thyroid dysfunction more frequently as compared to the general healthy population.
Highlights
Down syndrome is one of the most important human genetic disorders and occurs in one out of 600–700 newborns.[1,2] The number of people with Down syndrome in Poland is estimated at about 60 000
Mean thyroid-stimulating hormone (TSH) and fT4 concentrations in the children with Down syndrome were found to be significantly increased compared to the controls (4.30 ± 1.9 μIU/mL, 95% confidence intervals (CI): 3.55–5.04 μIU/mL vs. 3.10 ± 1.47 μIU/mL, 95% CI: 2.52–3.68 μIU/mL, P = 0.013, 95% CI: 0.26–2.14, and 1.33 ± 0.23 ng/dL, 95% CI: 1.25–1.42 vs. 1.19 ± 0.14 ng/dL, 95% CI: 1.13–1.25, P = 0.008, 95% CI: 0.04–0.24, respectively) (Table 2)
Univariate logistic regression showed that a rise in TSH by 1 μIU/mL or fT4 by 0.1 ng/dL increased the risk of Down syndrome approximately 1.5–fold (P = 0.019) and 1.6– fold (P = 0.014), respectively (Table 3)
Summary
Down syndrome is one of the most important human genetic disorders and occurs in one out of 600–700 newborns.[1,2] The number of people with Down syndrome in Poland is estimated at about 60 000. Patients with subclinical thyroid disease have few or no clinical symptoms of thyroid dysfunction and laboratory diagnosis is needed. In this context, the objective of the current study was to analyze the prevalence rate and pattern of thyroid function in children with Down syndrome in the Polish population.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
