A neonatal mass-screening for congenital adrenal hyperplasia in Japan

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Abstract
A pilot neonatal mass-screening for congential adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) was performed in the western region of Shizuoka Prefecture, Japan, using a simplified radioimmunoassay method for 17-hydroxyprogesterone (17-OHP) determination. The results obtained during a 30 mo. period indicated that 3 infants out of the 34314 neonates examined were proved to have 21-OHD, and the incidence of homozygotes and heterozygotes were estimated to be 1:11438 and 1:54, respectively. At the time of recall, the concentrations of plasma 17-OHP and 21-deoxycortisol and their urine metabolites as well as plasma Na levels were quite applicable to diagnosis, while the clinical signs may be manifest in 21-OHD were of little value in this connection. Prematurity and perinatal complications of neonates tended to give false-positive results, being secondary to the function of the residual fetal adrenal cortex and non-specific stimulatory effects of various stresses. Despite several technical and practical problems to be solved, the importance and validity of a neonatal mass-screening program for CAH was demonstrated.

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