AN IMPROVED METHOD FOR THE DETECTION OF HETEROZYGOSITY OF CONGENITAL VIRILIZING ADRENAL HYPERPLASIA |
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| Authors: | C. LEJEUNE-LENAIN F. CANTRAINE M. DUFRASNES F. PREVOT R. WOLTER J. R. M. FRANCKSON |
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| Affiliation: | Department of Clinical Chemistry and Department of Paediatrics, Hopital St Pierre, and Institute of Interdisciplinary Research, School of Medicine, University of Brussels, Brussels |
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| Abstract: | A modified short ACTH test for the detection of heterozygote carriers of 21-hydroxylase deficiency (21-OHD) was applied to twenty-one controls and fourteen parents of children with 21-OHD. The following modifications were introduced: (1) Endogenous ACTH was suppressed by dexamethasone administration prior to the test, (2) Plasma 17-hydroxyprogesterone (17-OHP), cortisol (F), progesterone (P), corticosterone (B) and delta 4- androstenedione (A) were measured, (3) Variables studied were the ratio of plasma increments (delta) between precursors and end products, (4) Data were analysed by a step-wise discriminant analysis. Significant alterations in the metabolic pathway of F, B and A were demonstrated. The discriminant analysis showed that the addition of B pathway data did not improve the discrimination potency of the test performed on F pathway data. The combination of variates which provided the best discrimination was the logarithmic sum of delta 170HP/delta F at 15 and 30 min. It led to a 94% correct classification for normals and carriers. |
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