Thyroid dysfunction in patients with Down syndrome: results from a multi-institutional registry study.
Abstract
The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made. We conclude that a sizable proportion of the patients with DS are not up-to-date on current guidelines when they present to a DS specialty clinic, while adherence to thyroid screening guidelines helps facilitate early diagnoses. Hypothyroidism is prevalent in the population, consistent with reported literature. DS specialty clinics can help patients stay current on screening guidelines.
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Prevalence of hypothyroidism is increased among patients with Down syndrome (31%-65%).
“Prevalence of hypothyroidism is increased among patients with Down syndrome (31%-65%) andTurnersyndrome(12.7%). 16-18”
From Hypothyroidism: A Review (2025) · cites this paper as [16]
Prevalence of hypothyroidism is increased among patients with Turner syndrome (12.7%).
“Prevalence of hypothyroidism is increased among patients with Down syndrome (31%-65%) andTurnersyndrome(12.7%). 16-18”
From Hypothyroidism: A Review (2025) · cites this paper as [16]
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- Authors
- Lavigne, J., Sharr, C., Elsharkawi, I., Ozonoff, A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J. C., Kishnani, P., Lombardo, A., Lyerly, J., McDonough, M. E., Schwartz, A., Berrier, K., Sparks, S., Stock‐Guild, K., Toler, T. L., Vellody, K., Voelz, L., & Skotko, B. G.
- Affiliations
- Carolinas Healthcare System (US)
- Massachusetts General Hospital (US)
- Boston Children's Hospital (US)
- Children's Hospital of Pittsburgh (US)
- Duke University (US)
- Down Syndrome Program, Division of Genetics, Department of Pediatrics Massachusetts General Hospital Boston Massachusetts
- Harvard University (US)
- Corresponding author
- Skotko, Brian G.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2017-03-23
- Volume
- 173
- Issue
- 6
- Pages
- 1539-1545
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2599760014
- Cited by
- 43
- References
- 24
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 1 · 2023: 7 · 2022: 6 · 2021: 8 · 2020: 5 · 2019: 5 · 2018: 2 · 2017: 3
- FWCI
- 3.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Health Sciences › Medicine › Surgery › Thyroid and Parathyroid Surgery
- Keywords
- Down syndrome, thyroid dysfunction, thyroid screening, screening guidelines adherence, hypothyroidism, thyroid-stimulating hormone, free thyroxine, early diagnosis, specialist clinics
- MeSH terms
- Adolescent, Adult, Aged, Child, Child, Preschool, Down Syndrome, Female, Humans, Hypothyroidism, Infant, Male, Middle Aged, Registries, Thyroid Diseases, Thyroid Function Tests, Thyroid Gland, Thyrotropin, Thyroxine
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