Background and Aims In the last decade a high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism detected by neonatal screening. Aproximately 10% of infants with congenital hypothyroidism have associated congenital anomalies. Cardiac anomalies are most common, but anomalies of the nervous system and eye have also been reported. The main objective of this study was identification of associated disorders in patients with congenital hypothyroidism.
Methods This descriptive study was performed on newborns with congenital hypothyroidism that had been diagnosed by screening in Qazvin province of Iran from 1385 to 1390. Variables were analyzed by Chi-square test.
Results In the screening 287 newborns with congenital hypothyroidism were diagnosed –122 female (42.2%). 36 (12.5%) of 287 patients had congenital anomalies. 10 (3.5%) Down syndrome, 10 (3.5%) cardiaovascular anomalies, 9 (3.1%) hearing disorder, 2 (0.7%) eye disorder, 2 (0.7%) metabolic disease, 2 (0.7%) disorder of face and ear, 2 (0.7%) CNS disorder, one (0.3%) CAH, one (0.3%) panhypopituitrism and one (0.3%) pseudohypoparathyroidism were diagnosed.
Conclusions With respect to the association of congenital anomalies with congenital hypothyroidism, every newborn with congenital hypothyroidism should be carefully examined for cardiaovascular disorders and other related anomalies.