Experiences with specific screening for early detection of congenital adrenogenital syndrome with 21-hydroxylase defect

In Southern Bavaria over 32 months a total of 575 newborn babies was selectively screened for CAH due to 21-hydroxylase deficiency. Whenever one of the 3 key symptoms "failure to thrive", "ambiguous or atypical genitalia" and/or "positive family history" were present, a small plasma sample was drawn for the rapid and centralized radioimmunologic determination of 17-hydroxyprogesterone (17-OHP) and cortisol. Pathologically elevated 17-OHP plasma levels were found in 9 babies with CAH in whom adequate replacement therapy with gluco- and mineralocorticoids could be initiated without delay. On the basis of a mean birth rate of 60 000 per year a relatively low prevalence of 1:20 000 was calculated. It is likely that this is due to the fact that such a selective newborn screening program fails to detect the clinically normal male infants with simple virilizing CAH.