Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

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Abstract
An enzyme-linked immunosorbent assay (ELISA) for Cortisol in dried blood collected on filter paper has been developed. The ELISA method is very simple and rapid and has sensitivity, accuracy and precision. The detection limit of the ELISA is 10 ng/ml blood. The intra- and interassay coefficients of variation are 11.5-13.5% and 15.7-16.7, respectively. Using the ELISA for Cortisol and 17-hydroxyprogesterone (17-OHP) previously reported, dried blood from normal newborns including premature infants (n = 1583) and 21-hydroxylase deficiency (21-OHD) patient (n = 9) were analyzed. 17-OHP, Cortisol and 17-OHP/Cortisol ratio of normal newborns are 12.5 +/- 7.5 ng/ml (1.0-140 ng/ml), 89.0 +/- 64.3 ng/ml (10-1580 ng/ml) and 0.16 +/- 0.08 (0.01-0.86), respectively. In 21-OHD patients, 17-OHP is 109-1361 ng/ml, Cortisol is 35.1-146.7 ng/ml and 17-OHP/cortisol ratio is 1.84-12.2. It made recall rate less to measure Cortisol in addition to 17-OHP and to take 17-OHP/Cortisol ratio. Therefore, additional measurement of Cortisol to the primary 17-OHP screening test is advantaged in differentiating the normal newborns from the 21-OHD patients.

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