Abstract

Background and objectives: Congenital hypothyroidism is the commonest neonatal endocrine disorder and most common treatable causes of mental retardation. The study aimed to find out the important clinical presentations of congenital hypothyroidism at onset of diagnosis and their response to treatment over first year of life. Methods: A longitudinal study conducted in Rapareen Paediatric Hospital, from April, 1st 2015 to May, 1st 2018. The study enrolled 38 neonates and infants with congenital hypothyroidism who divided in two groups, according to the age of presentation. Those presented in the first four weeks of life, and those presented after four weeks of age. Clinical features documented and tests done for all cases in the form of T4 and thyroid stimulating hormone at presentation, and repeated each month for three months, then every three months for one year. Thyroxin started in standard doses of 10–15 mcg/kg/day once a day and titrated to keep T4 level in the normal upper range. Assessment of all growth parameters development was done at each visit. Results: Mean age of presentation was 27(±19) days.Clinical presentations were, large fontanel in 33(86.84%), feeding difficulties 32(84.21%), and large head 17(44.73%),prolonged neonatal jaundice 29(76.31%). All growth parameters showed improvement after three to six months of treatment in both groups, but there was a significant delay in social and language development in-group two. Conclusion: Early diagnosis and treatment is crucial, those received treatment in early life showed near normal growth and development.

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