[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].
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.
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology*; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood*; D007124:Immunoenzyme Techniques; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D007564:Japan; D008403:Mass Screening / Q000379:methods*; D012016:Reference Values; D013250:Steroid Hydroxylases / Q000172:deficiency*
D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D013250:Steroid Hydroxylases