We have carried out a pilot neonatal mass-screening for CAH due to 21-hydroxylase deficiency(21-OHD) since Jan. 1984 in Tokyo, Japan, using two fluorescence EIA methods for “Disc-17-hydroxyprogesterone(17-OHP)” measurement, which are a direct EIA by β-galactosidase(Beta;-gal method) and an extractive EIA by peroxidase(POD method). During a period of 11-months, 25,546 neonates were examined and the mean±SD values by β-gal and POD methods were 18.1±12.4 and 1.78±1.58 ng/ml, respectively. We decided the 99th-per-centile value in β-gal method and the 99th-percentile value and/or 5ng/ml in POD method as re-sampling points, resulting 0.8% (213/25,546) were candidates for re-sampling. If neonates might show high “Disc-17-OHP” concentration beyond 20ng/ml, we recalled them immediately for detailed evaluations. As a result, 4 infants proved to have 21-OHD and the incidence of 21-OHD was calculated to be 1/6,387. Although there were many low-birth weight infants (47.3%) in the candidates for re-sampling, their absolute “Disc-17-OHP” values were much lower than those in the detected patients.The present study demonstrates that the fluorescence EIA methods for “Disc-17-OHP” measurement are well applicable for neonatal mass-screening for CAH and indicates that the incidence of 21-OHD is much greater than that previously reported by case-assessment.
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