title: [Experiences with specific screening for early detection of congenital adrenogenital syndrome with 21-hydroxylase defect].
abstract: 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.
authors.affiliation: Universitäts-Kinderklinik München.
authors.forename: H G
authors.initials: HG
authors.lastname: Dörr
authors.forename: W G
authors.initials: WG
authors.lastname: Sippell
authors.forename: F
authors.initials: F
authors.lastname: Bidlingmaier
authors.forename: V
authors.initials: V
authors.lastname: Berges
authors.forename: D
authors.initials: D
authors.lastname: Knorr
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics / Q000517:prevention & control*; D005260:Female; D005860:Germany, West; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D010865:Pilot Projects; D012307:Risk Factors; D013250:Steroid Hydroxylases / Q000172:deficiency*
chemical_list: D013250:Steroid Hydroxylases
vernacular_title: Erfahrungen mit einem gezielten Screening zur Früherkennung des kongenitalen adrenogenitalen Syndroms (AGS) mit 21-Hydroxylase-Defekt.