Etiological Investigation of Permanent Congenital Hypothyroidism in Neonates

Congenital hypothyroidism is one of the important preventable causes of mental restriction in children. Considering the importance of the etiology of the disease in the better management of patients in the later years of life and adulthood, this study was conducted with the aim of investigating the etiology of permanent congenital hypothyroidism in patients referred to children's clinic in Gorgan.

This cross-sectional study was conducted on 75 children's files with permanent congenital hypothyroidism. The diagnosis of the disease was made based on the findings of the technetium 99 thyroid scan after the completion of the three-year treatment period. Laboratory results, thyroid scan and information related to risk factors were extracted from patients' files.

56% of newborns were boys, 32% were born in winter and 61.3% were from Persian ethnicity. The most diagnosed permanent hypothyroidism was ectopic type. 37.33% of babies with permanent congenital hypothyroidism were born preterm. 67.6% of babies born with permanent congenital hypothyroidism weighed less than 2500 grams, and 41.3% of mothers had a history of hypothyroidism and in 42.7% of infants with permanent maternal hypothyroidism, the parents had a family relationship.

In the present study, prematurity of babies as well as hypothyroidism of the mother and family marriage of the parents in babies with permanent congenital hypothyroidism have a relatively high prevalence.