Congenital hypothyroidism among infants undergoing Thyroid Function Test: A cross-sectional study for prevalence in Gandaki Province

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 cross- sectional 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.