Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of adrenal steroidogenesis. The expected incidence in the Czech population is 1:10 000 to 1:15 000.
It results in adrenal insufficiency, which can be life threatening already in the newborn period. Numerous serious clinical problems can arise also in later childhood.
An early recognition of CAH by the neonatal screening may save the life of the most severely affected patients and substantially improve the quality of life of the remaining. The neonatal screening for CAH is based on the estimation of the 17a-hydroxyprogesterone level in the dried blood spot.
In developed countries, the screening for CAH is currently the most widespread addition to screening programs for phenylketonuria and congenital hypothyroidism. The assessment of its efficacy in conditions of the Czech Republic is essential.