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.
S U M M A R YA modified short ACTH test for the detection of heterozygote carriers of 2 1-hydroxylase deficiency (2 1 -0HD) 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 (1 7-OHP), cortisol (F), progesterone (P), corticosterone (B) and A4androstenedione (A) were measured, (3) Variables studied were the ratio of plasma increments (A) 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 A1 70HP/AF at 15 and 30 min. It led to a 94% correct classification for normals and carriers.Deficiency of 2 1-hydroxylase (21-OHD) is the commonest form of congenital adrenal hyperplasia (CAH). This autologous genetic disorder affects one child in about 5 000 (Prader et al., 1962). The frequency ofcarriers of the autologous recessive gene in a whole population has been estimated either at 1 : 125 (Childs et al., 1956) or at 1 : 28 (Prader et al., 1962). The prediction of 21-OHD is important since the disease is often accompanied by severe sodium depletion at birth, and by growth and endocrine disorders later on. In the basal state, it is not possible to distinguish between carriers and non-carriers. Several attempts were made to reveal the eventual latent metabolic block in the biosynthesis of cortisol by adrenal stimulation, which was induced either by exogenous ACTH injection (Childs et al., 1956) or by endogenous ACTH response to metyrapone administration
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