Abstract
In order to obtain an improved differentiation between heterozygotes and normals, the increase of 17-OHP in plasma of CAH parents (n=30) and of controls (n=31) was measured after ACTH (Synacthen) stimulation i.v. at 60' under standardised basal conditions. The ACTH stimulation was performed after suppression of the adrenal cortex with 1.5 mg dexamethasone (Dex.) given the previous evening. Females were tested between days 3 and 8 of the menstrual cycle. Plasma 17-OHP was measured by a specific RIA. The mean increase of 17-OHP was significantly higher in heterozygotes than in normals (p=0.0005). In the control group, 100% of the males and 89% of the females showed an increase below 200 ng/d1. Assuming an increase of 200 ng/d1 as the dividing line for the differentiation, 54% of the CAH fathers and 100% of the CAH mothers were found to be heterozygotes. Because of the unsatisfactory differentiation of CAH fathers, we now carry out our former test without Dex. administration in males. However, for the detection of female heterozygotes, the test described here is a marked improvement.
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Knorr, D., Bidlingmaier, F., Butenandt, O. et al. Progress in testing for heterozygosity in congenital adrenal hyperplasia (C A H ). Pediatr Res 12, 1100 (1978). https://doi.org/10.1203/00006450-197811000-00113
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DOI: https://doi.org/10.1203/00006450-197811000-00113
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