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

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Down syndrome (DS) is associated with a high prevalence of thyroid dysfunction.
• Current guidelines recommend regular thyroid screening for individuals with DS.
• Adherence to these screening protocols can be variable.

Purpose of the Study:

• To evaluate thyroid screening test outcomes in individuals with Down syndrome.
• To assess adherence to established thyroid screening guidelines.
• To examine the rate of new thyroid disorder diagnoses within DS specialty clinics.

Main Methods:

• Retrospective data collection from 663 individuals with DS across five specialty clinics.
• Analysis of thyroid screening test orders (TSH and free T4) during clinic visits.
• Calculation of adherence rates to screening guidelines and incidence of new thyroid diagnoses.

Main Results:

• Only 47.7% of participants had both TSH and free T4 ordered during their DS specialty clinic visit.
• A significant proportion, 19.0% (60/316), received a new diagnosis of a thyroid disorder.
• Thyroid screening adherence was found to be inconsistent with current recommendations.

Conclusions:

• A substantial number of individuals with Down syndrome are not up-to-date with recommended thyroid screenings upon clinic presentation.
• Adherence to thyroid screening guidelines is crucial for the early detection of thyroid disorders in the DS population.
• DS specialty clinics play a vital role in ensuring patients remain current with essential health screenings.