This test is often used to evaluate the “hypothalamic-pituitary-adrenal axis and pituitary ACTH reserve. 11-deoxycortisol is the immediate precursor and follows the same catabolic pathways as cortisol. This test can also be used to diagnose congenital adrenal hyperplasia (CAH), an inherited/genetic condition caused by deficiency in the CYP11B1 gene (for 11-beta-hydroxylase). The deficiency is an autosomal recessive trait, associated with low-renin hypertension, hypokalemia, excess androgens (androstenedione, especially), and genital ambiguity in females.
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