Results of neonatal screening for congenital adrenal hyperplasia

Abstract

The study was undertaken to evaluate the efficiency of the 2003-2004 neonatal screening for congenital adrenal hyperplasia (САН) in Tyumen and to estimate the prevalence of classical forms of 21-OH deficiency in the newborns by the results of the screening. Neonatal 17-OHP levels were determined in 20,011 neonatal infants by bilateral enzyme-linked immunosorbent assay (ELISA) at a sensitivity of 0.13 n/mol/l, by using "Delfia Neonatal 17-OHP" kits. In 124 (0.61%), the level of 17-OHP was greater than 60 nmol/l; retests identified 2 babies with salt-loosing САН. Thus, the Incidence of classical forms of САН was 1:10,005 in the Tyumen population. In low-weight premature infants, 17-OHP levels were significantly higher than those in full-term or normal-weight babies.