CONGENITAL ADRENAL HYPERPLASIA: A REVIEW OF 13 CASES DETECTED BY NEWBORN SCREENING

Newborn screening for 21-hydroxylase deficiency, which is the most common type of congenital adrenal hyperplasia (CAH), was started in the Philippines in June 1996. CAH was screened using the Delfia 17-OHP time-resolved fluoroimmunoassay with a false positive rate of 0.02% and false negative rate of 0.002%. Radioimmunoassay was used as a confirmatory test. A total of 13 cases of 21-hydroxylase deficiency cases were detected out of 100,369 newborns screened. Females outnumbered the males (1.6:1). Mean age when screening was done was 13.8 days. The mean age when screening results were made available was 27.5 days. This was mainly attributed to the delay in sending samples to the screening laboratory which was on the average 11.9 days. The salt-losing type of 21-hydroxylase was the most common clinical form. All 13 cases are alive.