Thyroid dysfunction in Down syndrome: A review

Abstract

Clinical forms of hypothyroidism found in individuals with Down syndrome include transient and primary hypothyroidism, pituitary-hypothalamic hypo-thyroidism, thyroxin-binding globulin (TBG) deficiency and chronic lymphocytic thyroiditis. Hyperthyroidism also occurs occasionally. The frequency of thyroid disease is elevated in patients with Down syndrome, starting in the newborn population where it is 0.7% (or 28 times more frequent than in the general population). Twelve per cent or more of adults with Down syndrome have thyroid disease. Thyroid disease is difficult to diagnose clinically in individuals with Down syndrome because of an overlap of symptoms. This makes thyroid blood screening a particularly important part of the annual preventive medicine screening of each person with Down syndrome.