ESTABLISHING A NATIONWIDE NEWBORN SCREENING PROGRAM FOR CONGENITAL HYPOTHYROIDISM: A SYSTEMATIC REVIEW

Abstract

Objective: The congenital hypothyroidism (CH) is a treatable hormonal disease that if left untreated in neonates, results in irreversible mental retardation. Newborn screening for CH and thyroid hormone replacement therapy started within two weeks of age can control cognitive development. This study aimed to estimate CH incidence in Pakistani population.

Material and Methods: Electronic databases and the bibliography of articles were searched, and a systematic review of publications reporting the incidence of CH in Pakistan was carried out. The studies fulfilling the following criteria were analyzed: retrospective and prospective studies, adult population; pediatric population; Thyroid Stimulating Hormone (TSH); Dried Blood Spot (DBS); serum testing quantitative; English language. 

Results: We identified nine studies that narrated the incidence of CH in our country. According to this systematic review, the maximum estimated incidence of CH was 1:1600 reported for Pakistani population. Compared to the incidence of CH from other parts of the world (1:2000-1:4000), incidence from Pakistan is high.

Conclusion: According to these findings, this high incidence highlights the need for a National Newborn Screening (NBS) program for CH. We have proposed a strategy for establishing a nationwide NBS program for CH.

Key Words: Newborn screening, Congenital hypothyroidism, Pakistan, Thyroid-stimulating hormone, Mental retardation.