Clinical features of children evaluated with preliminary diagnose of congenital hypothyroidism

In this study, it was aimed to evaluate the clinical features of children referred with a preliminary diagnosis of congenital hypothyroidism. 397 infants with a median age of 21 days (3-88) and including 209 (52.6%) girls referred to the pediatric endocrinology outpatient clinic of our hospital between 2014 and 2020 with the preliminary diagnosis of congenital hypothyroidism within the scope of the national newborn screening program were included in the study. Screening data, presentation characteristics and final diagnosis of these infants were retrospectively reviewed from hospital records. Treatment was initiated with the diagnosis of congenital hypothyroidism in 187 (47%) of 397 infants included in the study while 8 (%2) of 187 babies in total were treated at follow up. There was no difference in terms of gender and mode of delivery in babies who were treated (p>0,05). However, treatment initiated infants had lower age, birth weights, free T4 levels at onset of treatment (respectively p<0,001, p=0,045 ve p<0,001), and higher TSH levels (p<0,001). 58.5% of babies diagnosed with permanent hypothyroidism were started treatment within 21 days and 82,5% within one month. There was no significant difference between groups in terms of gender, mode of delivery, age at onset of treatment, birth weights, and TSH levels at admission (p>0,05). Free T4 levels were The fact that approximately half of the babies diagnosed with permanent hypothyroidism were started on treatment after 21 days of age indicates that evaluation processes of babies after screening program should be reviewed. Key words: Congenital hypothyroidism, transient hypothyroidism, permanent congenital hypothyroidism, newborn screening program .