Hala M. Yousif, Rawan A. Alotaibi, Nada R. Almshhen
Background: Congenital hypothyroidism (CH) is known as one of the most common preventable causes of mental retardation, with a worldwide prevalence of 1:3500–1:5000, and a prevalence in Saudi Arabia of 1:2500. CH is classified into primary or secondary hypothyroidism. Almost all infants with CH do not show clear clinical picture of hypothyroidism at birth, due to the beneficial effect of transplacental maternal thyroid hormone to the fetus. Early diagnosis is critical due to its role in brain growth through the first few months of life. Objectives: 1.Determine the prevalence of congenital hypothyroidism in Saudi Arabia. 2.Identify the diagnostic criteria of congenital hypothyroidism. 3.Explore the outcome of congenital hypothyroidism. Review of literature: A recent regional screening program was done in Saudi Arabia in 2011 revealed an analysis of 1,007350 newborns, and showed CH in 306 indicating an incidence 1 in 3292. Evidences showed that age of starting Levothyroxine treatment dose, and severity of hypothyroidism each plays an important role in neurocognitive outcome. Conclusion: The newborn screening for congenital hypothyroidism has been incorporated into neonatal screening programs. Studies from various regional programs in Saudi Arabia have revealed an incidence of 1 in 2500- 3500. Neurodevelopmental outcome generally is normal, if the diagnosis is made and treatment started within a few weeks of birth. Keywords: Congenital, hypothyroidism, dyshormongenesis, screening, Saudi Arabia, prevalence, Levothyroxine.