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  • Title: [Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1. Enzyme immunoassay of dried blood 17 alpha-hydroxyprogesterone and its application to neonatal screening for congenital adrenal hyperplasia].
    Author: Fukushi M, Arai O, Mizushima Y, Takasugi N, Fujieda K, Matsuura N.
    Journal: Nihon Naibunpi Gakkai Zasshi; 1986 Jun 20; 62(6):683-96. PubMed ID: 3530828.
    Abstract:
    An enzyme immunoassay for measuring 17 alpha-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. 17-OHP values of neonates with congenital adrenal hyperplasia (CAH, 40 ng/ml) were extremely high compared with normal neonates (1.1 +/- 0.7 ng/ml). There was a negative correlation between the 17-OHP value and birth weight. 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. 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.
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