Abstract
Congenital hypothyroidism is the most frequent inborn endocrine disorder and one of the main preventable causes of mental retardation. Thanks to the neonatal screening, we are able to diagnose this disorder before the development of severe clinical symptoms and initiate the treatment in neonatal period.
Nation-wide neonatal screening for congenital hypothyrodism was established in 1985 in the Czech Republic. The previous generations of children, diagnosed as late as clinical symptoms developed and treated late or even untreated suffered from many severe consequences, mainly psychomotor and mental retardation.
Nowadays, more than 90% of children diagnosed in neonatal screening are able to grow, develope and reach a normal quality of life, comparably with healthy siblings.