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11-Deoxycortisol, LC/MS-MS (Endocrine Sciences)
- Compound S
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.
Liquid chromatography/tandem mass spectrometry (LC/MS-MS) after chromatography and solvent extraction
26 to 28 wk, day 4
31 to 35 wk, day 4
31 d to 11 m
Pubertal Children and Adults
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.
Serum (preferred) or plasma
Serum/plasma must be separated from cells within 45 minutes of venipuncture. Send serum/plasma in a plastic transport tube.
For information on metyrapone testing, consult the Metyrapone Stimulation section of the Endocrine Appendix.