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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Lavigne, J; Sharr, C; Elsharkawi, I; Ozonoff, A; Baumer, N; Brasington, C; Cannon, S; Crissman, B; Davidson, E; Florez, JC; Kishnani, P; Lombardo, A; Lyerly, J; McDonough, ME; Schwartz, A; Berrier, K; Sparks, S; Stock-Guild, K; Toler, TL; Vellody, K; Voelz, L; Skotko, BG

Published Date

  • June 2017

Published In

Volume / Issue

  • 173 / 6

Start / End Page

  • 1539 - 1545

PubMed ID

  • 28332275

Electronic International Standard Serial Number (EISSN)

  • 1552-4833

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.38219


  • eng

Conference Location

  • United States