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Thyroid dysfunction in children with Down syndrome: a literature review
K King1, C O'Gorman, S Gallagher
1Graduate Entry Medical School, Clinical Academic Liaison Building, University of Limerick, University Hospital, Dooradoyle Campus, Limerick, Ireland, 11104228@studentmail.ul.ie.
Insights
Children with Down syndrome (DS) have a high prevalence of thyroid disease. Current guidelines offer similar recommendations for thyroid function tests, but more research is needed for subclinical hypothyroidism management in DS patients.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Children with Down syndrome (DS) exhibit a higher incidence of thyroid dysfunction compared to the general pediatric population.
- Thyroid disorders in DS include congenital hypothyroidism, autoimmune thyroid disease, subclinical hypothyroidism, and hyperthyroidism.
Purpose of the Study:
- To provide an evidence-based review of thyroid disease in children with Down syndrome.
- To compare current international professional guidelines for managing thyroid disease in this population.
Main Methods:
- A comprehensive literature search was performed using Medline and PubMed.
- Keywords included "Down syndrome" combined with various thyroid disease terms.
- Guidelines from five expert groups across Ireland, the UK, USA, Australia, and Canada were reviewed.
Main Results:
- Eighty-nine articles were reviewed, alongside five sets of clinical guidelines.
- Most guidelines recommend similar frequencies for thyroid function tests; only Ireland and the UK suggest less than annual testing.
- Specific guidelines vary on thyroid antibody screening frequency, and none address optimal management of subclinical hypothyroidism.
Conclusions:
- Current guidelines for thyroid disease in children with Down syndrome are largely consistent regarding screening frequency.
- There is a significant need for more evidence, particularly from prospective randomized controlled trials, to determine the optimal management strategy for subclinical hypothyroidism in children with Down syndrome.
Introduction:
This article is an evidence-based review of thyroid disease in children with Down syndrome, including a comparison between various professional guidelines for the management of thyroid disease in children with Down syndrome. Aspects of thyroid disease which are discussed include: congenital hypothyroidism; autoimmune thyroid disease; subclinical hypothyroidism; and hyperthyroidism. The national professional guidelines of Ireland, the United Kingdom, the United States of America, Australia and Canada are reviewed and compared.
Materials And Methods:
A literature search was conducted using Medline and PubMed. Search terms included 'Down syndrome' and 'thyroid disease', 'hypothyroidism', 'hyperthyroidism', 'subclinical hypothyroidism'.
Results:
Eighty-nine articles were retrieved and reviewed for inclusion. The guidelines on the medical management of children with Down syndrome of five expert groups have also been retrieved and reviewed for this discussion. These various guidelines offer largely similar advice regarding frequency of thyroid function tests, with only Ireland and the UK testing less frequently than annually. Only the United Kingdom and Irish Down Syndrome Medical Interest Group guidelines suggest testing for thyroid antibodies at every thyroid screen. None of the guidelines offer suggestions on the optimal course of action to pursue after the discovery of subclinical hypothyroidism.
Conclusion:
In conclusion, more evidence is required regarding the optimal course of treatment for subclinical hypothyroidism. Such evidence may be best obtained by conducting a prospective randomized control trial.
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