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  • Title: Heterozygotes for 17 alpha-hydroxylase deficiency can be detected with a short ACTH test.
    Author: Wit JM, van Roermund HP, Oostdijk W, Benraad TJ, Thijssen JH, Boer P, Jansen M, Spit M, van den Brande JL.
    Journal: Clin Endocrinol (Oxf); 1988 Jun; 28(6):657-64. PubMed ID: 2855412.
    Abstract:
    A short ACTH test was performed in the six parents, and four siblings, of three cases with 17 alpha-hydroxylase deficiency. Baseline steroid levels were all normal in female heterozygotes but in males 17 alpha-hydroxyprogesterone levels were elevated. After ACTH-stimulation, plasma levels of corticosterone were elevated in five obligate heterozygotes and 18-hydroxydeoxycorticosterone levels were increased in four of them. Two of the four siblings had biochemical signs of heterozygosity. The short ACTH test appears to be an efficient method for detecting heterozygosity, but the abnormalities found are more heterogeneous than previously suggested.
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