Abstract

Introduction: Congenital hypothyroidism, associated
with developmental disabilities, is a treatable condition.
Initiation of treatment within the first two weeks of life is
crucial for optimal outcomes but goes undiagnosed at birth
many times due to lack of newborn screening program.
This study aimed to find the prevalence of congenital
hypothyroidism and age of the diagnosis so that evidence
could be generated for the need of newborn screening
program.
Materials and Methods: This is descriptive crosssectional
retrospective study. Database of Department of
Biochemistry, Western Regional Hospital was accessed to
retrieve the report of thyroid function test of 1122 infants
who had undergone the test between 1st June 2022 and 31st
May 2023. As per the Guidelines of European Society of
Paediatric Endocrinology (ESPE), biochemical criteria
of TSH and/or FT4 concentration was used to categorise
the infant positive for congenital hypothyroidism which is
used for initiation of treatment.
Result: Prevalence of the disease was 2.4% out of which
1.7% had TSH >20mU/L. Most common age when infants
were diagnosed with congenital hypothyroidism was seven
to nine months when 1.07% of the infants were diagnosed.
Prevalence of the disease was greater among male infants.
Conclusion: Prevalence of congenital hypothyroidism
among infants undergoing thyroid function test is 2.4%.
New-born screening should be introduced in medical
practice and in health policy because many infants go
undiagnosed at time of birth and diagnosed late.
Keywords: Congenital hypothyroidism; new-born
screening; thyroid function tests.

Keywords: Congenital hypothyroidism