January - March 2009, Volume 5, Issue 1

Pascanu I, Banescu C, Benedek T, Duicu C, Csep K, Dema A

Thyroid dysfuntion in children with Down’s syndrome

Acta Endo (Buc) 2009, 5 (1): 85-92
doi: 10.4183/aeb.2009.85

Background. Patients with Down’s syndrome have an increased prevalence of\r\nautoimmune thyroid diseases.\r\nAim. The purpose of this study was to assess the prevalence of thyroid dysfunction in\r\nchildren with Down’s syndrome (DS) and to find the best screening and management strategy\r\nin this group of patients.\r\nMethods. A total of 63 DS patients aged between 5 days and 18 years from our University\r\nHospital, were recruited. In all patients, serum free T4, and TSH were measured, the presence\r\nof congenital anomalies and specific clinical findings were assessed. Karyotype was performed\r\nin each case.\r\nResults. Sixty patients showed total 21 trisomy. Mosaicism was present in other 2 cases\r\n(3.17%) and only one girl had 47,XXder(14;21)(q10;q10)+21.\r\nHigh TSH level was seen in 24 out of 63 cases (38 %) of which 1 (1.5%) had congenital\r\nmixedema while the other 23 had a high TSH level. According to TSH levels, these 23 patients\r\nwere divided into two groups: the first group with TSH between 6-10 microUI/mL (17 patients-\r\n27%), and the second with TSH>11 microUI/mL (6 patients - 9.5%). Thyroid ultrasound was\r\nalso performed and antibodies to thyroid peroxidase, anti-TPO, were measured, when TSH\r\nlevel was high. In all cases thyroid ultrasound showed a normal located thyroid gland. In the\r\ngroup of patients with TSH level above 11 microUI/mL, two had congenital heart disease, but\r\nnone of them had gastrointestinal disease.\r\nHyperthyroidism was not observed in any of the cases.\r\nConclusions. Children with DS have high prevalence of thyroid dysfunction and\r\nbiochemical screening of this is essential. Subtle thyroid abnormalities were the most common\r\nfinding in DS.

Keywords: Down’s syndrome, hypothyroidism.

Correspondence: I. Pascanu, MD, PhD, University of Medicine and Pharmacy Targu Mures,\r\nDepartment of Genetics, 38 Gh Marinescu St, MS, 540 000, Romania; Phone: +40-265-215551;\r\nFax:+40-265-210407; Email: iopascanu@gmail.com