11-Deoxycortisol, LC/MS-MS

A primary use of 11-desoxycortisol testing is to detect congenital adrenal hyperplasia due to steroid 11-β-hydroxylase deficiency. This is a genetic disease caused by a deficiency of the CYP11B1 gene. 11-β-hydroxylase deficiency is transmitted as an autosomal recessive trait. It is associated with low-renin hypertension, hypokalemia, excess androgens (especially androstenedione), and genital ambiguity in affected females. The differential biochemical diagnosis of congenital adrenal hyperplasia caused by 11-β-hydroxylase deficiency includes finding increased serum concentrations of deoxycorticosterone, 11-desoxycortisol and androstenedione, and suppressed plasma renin concentrations. The disorder may be treated by administration of glucocorticoids. An additional use is to evaluate hypothalamic-pituitary-adrenal axis and pituitary ACTH reserve. 11-deoxycortisol is the immediate precursor of cortisol and follows the same catabolic pathways as cortisol.