Thyroid dysfunction in children with Down's syndrome

Thyroid function tests were carried out on 320 children with Down's syndrome aged between 5 d and 10y. Thyroid function was normal in 230 patients (71.9%) and abnormal in 90 (28.1%). Six patients (1.8%) had primary congenital hypothyroidism, one patient had acquired hypothyroidism and two had transient hyperthyrotropinaemia of the newborn. Sixteen of the remaining 81 patients (25.3%) had compensated hypothyroidism with increased thyroid‐stimulating hormone (TSH) levels (11‐20mU 1−1). Their T4 levels were found to be either normal or close to the lower limit of normal. These cases were started on thyroxine therapy. Sixty‐five of the 81 patients had a mild compensated hypothyroidism with mild TSH elevation (6‐10 mU 1−1). None of the patients had hyperthyroidism. The antithyroid antibodies were positive in the acquired hypothyroidism case. Conclusion: The prevalence of congenital hypothyroidism was 1.8% in children with Down's syndrome while 25.3% of them had compensated hypothyroidism. It is suggested that Down's syndrome patients with normal thyroid functions and those with compensated hypothyroidism should be followed annually and every 3 mo, respectively. Besides congenital hypothyroidism cases, those with TSH levels between 11 and 20 mU 1−1 may benefit from treatment with low‐dose thyroxine.