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21-Deoxycortisol is a corticosteroid metabolite of 17-hydroxyprogesterone produced in the adrenal gland via 11-hydroxylation by 11β-hydroxylase.1,2 Serum levels of 21-deoxycortisol are elevated in patients with congenital adrenal hyperplasia that are heterozygous for mutations in CYP2A21, the gene encoding steroid 21-hydroxylase, and have been used as a biomarker for the detection of 21-hydroxylase deficiencies.

1.Fiet, J., Villette, J.-M., Galons, H., et al.The application of a new highly-sensitive radioimmunoassay for plasma 21-deoxycortisol to the detection of steroid-21-hydroxylase deficiencyAnn. Clin. Biochem.31(Pt. 1)56-64(1994) 2.Cristoni, S., Cuccato, D., Sciannamblo, M., et al.Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoringRapid Commun. Mass Spectrom.18(1)77-82(2004)

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