Procedure in the suspected case of the 21-hydroxylase deficiency detected in Czech newborn screening
Abstract
Congenital adrenal hyperplasia (CAH) are represents a group of autosomal recessive diseases resulting from mutations of enzyme genes mediating biochemical steps of steroidogenesis. the most frequent type of CAH is 21-hydroxylase deficiency. Clinical symptoms and their severity are closely related to the level of the residual enzyme activity which depends on the type of mutation. the aim of newborn 21-hydroxylase deficiency screening is to avoid the known clinical outcomes - life-threatening salt-wasting form or precocious puberty and short stature.
Population wide detection by means of newborn screening is performed by analysis of serum concentration of 17-hydroxyprogesterone (17-oHP) in dried blood spots collected from the newborn at the age of 48 - 72 hours. the interpretation of screening values of 17-oHP is difficult, depending not only on the newborn weight or gestational age, but also on the time of sample collecting and on the overall newborn clinical situation. the screening results have to be confirmed subsequently by laboratory biochemical, molecular and genetic methods. CaH therapy includes supplying cortisol and aldosterone. the aim of this article is to present the process implemented in the Czech Republic for positive results of CaH screening.