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Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study

2017; Wiley; Volume: 173; Issue: 6 Linguagem: Inglês

10.1002/ajmg.a.38219

1552-4833

Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell K. Brasington, Sheila Cannon, Blythe G. Crissman, Emily Davidson, José C. Florez, Priya S. Kishnani, Angela Lombardo, Jordan Lyerly, Mary Ellen McDonough, Alison Schwartz, Kathryn L. Berrier, Susan Sparks, Kara Stock‐Guild, Tomi L. Toler, Kishore Vellody, Lauren Voelz, Brian G. Skotko,

Diabetes and associated disorders

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.