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

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

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


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.

Original languageEnglish
Pages (from-to)1539-1545
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
StatePublished - Jun 2017


  • Down syndrome
  • patient database
  • registry
  • subclinical hypothyroidism
  • thyroid disease
  • trisomy 21


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