A neonatal mass-screening for congenital adrenal hyperplasia in Japan.
A pilot neonatal mass-screening for congenital 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 'Disc-17-hydroxyprogesterone (17-OHP) determination. The results obtained during a 30-month 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 sodium levels were quite applicable to diagnosis, while the clinical signs that 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 foetal adrenal cortex and non-specific stimulatory effects of various stresses. Despite several technical and practical problems to be solved, the present study demonstrated the importance and validity of a neonatal mass-screening program for CAH.
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000453:epidemiology* / Q000209:etiology; D003900:Desoxycorticosterone / Q000097:blood / Q000172:deficiency; D005189:False Positive Reactions; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D008403:Mass Screening; D010865:Pilot Projects
D006908:Hydroxyprogesterones; D003900:Desoxycorticosterone; D019326:17-alpha-Hydroxyprogesterone