21-Deoxycortisol
chemical compound
21-Deoxycortisol, also known as 11β,17α-dihydroxyprogesterone or as 11β,17α-dihydroxypregn-4-ene-3,20-dione, is a naturally occurring, endogenous steroid related to cortisol (11β,17α,21-trihydroxyprogesterone) which is formed as a metabolite from 17α-hydroxyprogesterone via 11β-hydroxylase.
Marker of 21-hydroxylase deficiency
21-deoxycortisol is a marker of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, even in mild (non-classic) cases. It can be also used for newborn screening.
The deficiency of the 21-hydroxylase enzyme leads to excess of 17α-hydroxyprogesterone, a 21-carbon (C21) steroid. This excess is accompanied by the accumulation of other C21 steroids, such as 21-deoxycortisol, which is formed by the 11β-hydroxylation of 17α-hydroxyprogesterone via 11β-hydroxylase (CYP11B1). The build-up of 21-deoxycortisol in patients with congenital adrenal hyperplasia have been described since at least 1955, this steroid was then called "21-desoxyhydrocortisone". Unlike 17α-hydroxyprogesterone, 21-deoxycortisol is not produced in the gonads and is uniquely adrenal-derived. Hence, 21-deoxycortisol is a more specific biomarker of 21-hydroxylase deficiency than is 17α-hydroxyprogesterone.
The corticosteroid activity of 21-deoxycortisol is lower than that of cortisol.
As 21-deoxycortisol can be at high levels in congenital adrenal hyperplasia, and it has structural similarity to cortisol, it can cross-react in immunoassays, resulting in a falsely normal or high cortisol result, when the true cortisol is actually low.
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