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  • Title: Heterozygote detection in congenital adrenal hyperplasia.
    Author: Handelsman DJ, Howe CJ, Conway AJ, Turtle JR.
    Journal: Clin Chem; 1983 Jan; 29(1):48-50. PubMed ID: 6848281.
    Abstract:
    Detection of heterozygote carriers for congenital adrenal hyperplasia by use of a modified tetracosactide (a synthetic corticotropin) stimulation test with prior overnight dexamethasone suppression proved to have a diagnostic accuracy of 95%. Discrimination of heterozygotes from normals was best when we used a criterion based on the ratios of 17 alpha-hydroxyprogesterone to cortisol at baseline and at 30 min after intravenous administration of 250 micrograms of tetracosactide.
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