先天性副腎皮質過形成 (21-水酸化酵素欠損症) のマス・スクリーニングに関する研究:第1報-乾燥濾紙血液17α-hydroxyprogesteroneの酵素免疫測定法の基礎的検討と新生児マス・スクリーニングへの応用-

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An enzyme immunoassay for measuring 17α-hydroxyprogesterone (17-OHP) in dried blood collected on filter paper has been developed. The method is easy and rapid and has specificity, accuracy and precision.<BR>17-OHP values of neonates with congenital adrenal hyperplasia (CAH, 40ng/ml) were extremely high compared with normal neonates (1.1± 0.7ng/ml). There was a negative correlation between the 17-0HP value and birth weight.<BR>The method has been applied to neonatal screening for CAH due to 21-hydroxylase deficiency. During 38 months, 67,392 neonates were screened. The recall rate and the medical evaluation rate were 1.16% and 0.09%, respectively. A third of recalled neonates were low birth weight infants. 5 neonates were proven to have CAH, and its incidence was 1 : 13,478.<BR>The present study demonstrates the feasibility of a neonatal screening for CAH and indicates that the frequency of CAH may be greater than previously reported by case assessment method in Japan.