Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome


Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Thyroid disease is a frequent comorbidity in individuals with Down syndrome (DS).
• Previous studies on thyroid abnormalities in DS have limitations.
• This study assesses thyroid abnormalities in a large cohort of children with DS.

Purpose of the Study:

• To determine the prevalence of thyroid abnormalities in children with Down syndrome.
• To investigate associations between thyroid dysfunction and common comorbidities in DS.
• To establish optimal screening protocols for thyroid disease in DS.

Main Methods:

• Retrospective review of medical records from a single institution.
• Analysis of a cohort of 508 patients with Down syndrome.
• Calculation of prevalence and associations of thyroid abnormalities.

Main Results:

• 24% of patients had a thyroid-related diagnosis, most commonly elevated thyrotropin treated with levothyroxine.
• Projected 50% prevalence of thyroid disorder by adulthood; 20% of hypothyroidism diagnosed before 6 months.
• 50% tested positive for antithyroid antibodies, 100% in overt hypothyroidism; no association with comorbidities.

Conclusions:

• Thyroid disease in DS is more common and earlier-onset than in the general population, often transient.
• Thyroid disease in DS is not associated with gender, obesity, or other comorbidities.
• Recommend selective antithyroid antibody testing and an additional thyroid screen between newborn and 6-month visits for early hypothyroidism detection in DS.