Results of the newborn screening program for congenital adrenal hyperplasia in Berlin (1992-1999)

Background. In 1992 in Bertin a screening for congenital adrenal hyperplasia (CAH) was introduced. Diagnosis. Since then nearly 250 000 newborns were screened and 26 newborns with classical CAH due to 21-hydroxylase deficiency were detected. The diagnosis was ascertained by specific determination of serum 17-OHP and molecular genetic diagnosis. The incidence was 1:9594 newborns, which is comparable to the incidence reported by other screening programs world-wide and double the incidence established by clinical diagnosis. 14 female and 12 male patients were detected, with 12 male and 8 females presenting with the salt-wasting form (77% of all patients). The diagnosis was made between the second and 10th day of life and therapy was started usually on the next day. A metabolic crisis was prevented in all cases. Only in 7 of the 14 girls there was a suspicion of CAH because of an intersexual development of the external genitalia. Thus, in all boys and in 50% of the girls the diagnosis was made by screening. Using gestational age adjusted percentiles of 17-OHP-concentrations the recall rate in preterms was kept low with an overall recall rate of 0.6%. Conclusion. Using the described method and procedure newborn screening for CAH proved to be cost-effective in improving the diagnosis and treatment of CAH.