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Pathophysiological mechanisms and optimization of diagnosing congenital adrenal hyperplasia
 Malíková, Jana ; Lebl, Jan (advisor) ; Vrbíková, Jana (referee) ; Zapletalová, Jiřina (referee)
Autoreferát 5 Summary Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases which are characterized by inadequate secretion of steroid hormones of the adrenal cortex. The most common type of CAH is a deficiency of 21-hydroxylase (CYP21A2 gene), which leads to insufficient secretion of mineralocorticoids and glucocorticoids and excessive androgen production. There is apparent good correlation between the type of mutation and a 21-hydroxylase deficiency, and subsequently the clinical presentation. Neonatal screening for CAH was introduced to early and effectively recognize the most severe type of 21-hydroxylase deficiency (salt wasting form of CAH). Neonatal screening CAH is based on the detection 17-OHP level in dried blood spots by fluoroimmunoassay (Delfia). In the Czech Republic NS CAH was implemented to screening program in 2006. During the period of 2006 - 2011 we evaluated the results of NS CAH and we observed sensitivity of 98%, specificity of 99.5%, a low positive predictive value (PPV) of 1.6% and a high false positive rate (FPR) of 0.51% in the whole group examined newborns. Due to the low positive predictive value in the part of neonatal population (0.51%) the levels of 17-OHP are repeatedly checked for transiently elevated levels of 17-OHP above the cut-off limit of...
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