In 11 beta-hydroxylase 1 (CYP11B1) deficiency, serum concentrations of cortisol will be low (usually <7 microgram/dL for a morning draw). 11-Deoxycortisol and 11-deoxycorticosterone are elevated, usually to at least 2 to 3 times (more typically 20 to 300 times) the upper limit of the normal reference range on a morning blood draw....
Read MoreMeasuring free cortisol and cortisone are used to determine low-renin hypertension via apparent mineralocorticoid excess. A genetic defect (11HSDB2) or acquired enzyme inhibitor (e.g. glycyrrhizic acid [from natural licorice]) may be to blame.
Read MoreThis 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.
Read MoreElevated levels of this hormone indicate increased adrenal, ovarian or testicular production, and may indicate: adrenal tumor, adrenal cancer, adrenal hyperplasia, congenital adrenal hyperplasia but further testing is needed for a diagnosis.
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