THYROID DYSFUNCTION IN CHILDREN WITH DOWN'S SYNDROME

Background. Patients with Down's syndrome have an increased prevalence of autoimmune thyroid diseases. Aim. The purpose of this study was to assess the prevalence of thyroid dysfunction in children with Down's syndrome (DS) and to find the best screening and management strategy in this group of patients. Methods. A total of 63 DS patients aged between 5 days and 18 years from our University Hospital, were recruited. In all patients, serum free T4, and TSH were measured, the presence of congenital anomalies and specific clinical findings were assessed. Karyotype was performed in each case. Results. Sixty patients showed total 21 trisomy. Mosaicism was present in other 2 cases (3.17%) and only one girl had 47,XXder(14:21)(q10;q10)+21. High TSH level was seen in 24 Out of 63 cases (38%) of which 1 (1.5%) had congenital mixedema while the other 23 had a high TSH level. According to TSH levels, these 23 patients were divided into two groups: the first group with TSH between 6-10 microUl/mL (17 patients-27%), and the second with TSH>11 microUl/mL (6 patients-9.5%). Thyroid ultrasound was also performed and antibodies to thyroid peroxidase, anti-TPO, were measured, when TSH level was high. In all cases thyroid ultrasound showed a normal located thyroid gland. In the group of patients with TSH level above 11 microUl/mL, two had congenital heart disease, but none of them had gastrointestinal disease. Hyperthyroidisrn was not observed in any of the cases. Conclusions. Children with DS have high prevalence of thyroid dysfunction and biochemical screening of this is essential. Subtle thyroid abnormalities were the most common finding in DS.