[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.
Dörr
H G
HG
Universitäts-Kinderklinik München.
Sippell
W G
WG
Bidlingmaier
F
F
Berges
V
V
Knorr
D
D
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*
D013250:Steroid Hydroxylases
Erfahrungen mit einem gezielten Screening zur Früherkennung des kongenitalen adrenogenitalen Syndroms (AGS) mit 21-Hydroxylase-Defekt.