Background: The term congenital hypothyroidism was introduced more than 60 years ago when Radwin et al. first described children with hypothyroid-associated features of severe intellectual disability and growth retardation. It is the most common endocrine congenital disorder and preventable cause of mental retardation. Newborn screening programs are an efficient tool for the secondary prevention of mental retardation associated with untreated congenital hypothyroidism. In Costa Rica newborn screening was started on 1985 with three diseases: congenital hypothyroidism, maple syrup urine disease and phenylketonuria. Nowadays 25 diseases are screened through our program.
Objective and Hypotheses: To present the Costa Rican experience with the Congenital Hypothyroidism Screening Program.
Method: Costa Rica is a small country the territory is 51100 km2, population is 4 301 712 million people. The estimated Gross National Income (GNI) per capita is $ 8820 USD. The life expectancy at birth is 79.7 years (82 for women and 77.5 for men); the infant mortality rate (per 1000) is 8.6%. The health expenditure per capita is $950.8 USD.
The national newborn screening program started on 1985 with three diseases, currently 25 diseases are screened; during 2013 69 356 first samples were processed. With a cost of $21.22 USD per test. Since 1990 until 2013, 454 cases have been detected, which gives us a prevalence of one in 3336 screened infants. The national coverage of the program since 2007 until 2012 is superior to 98%.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology