21-Deoxycortisol
Chemical compound
From Wikipedia, the free encyclopedia
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.[1]
| |
| Names | |
|---|---|
| IUPAC name
11β,17α-Dihydroxypregn-4-ene-3,20-dione | |
| Systematic IUPAC name
(1R,3aS,3bS,9aR,9bS,10S,11aS)-1-Acetyl-1,10-dihydroxy-9a,11a-dimethyl-1,2,3,3a,3b,4,5,8,9,9a,9b,10,11,11a-tetradecahydro-7H-cyclopenta[a]phenanthren-7-one | |
| Other names
21-Desoxycortisol; 21-Dehydrohydrocortisone; 21-Deoxyhydrocortisone; 11β,17α-Dihydroxyprogesterone | |
| Identifiers | |
3D model (JSmol) |
|
| ChEBI | |
| ChEMBL | |
| ChemSpider | |
| KEGG | |
PubChem CID |
|
| UNII | |
CompTox Dashboard (EPA) |
|
| |
| |
| Properties | |
| C21H30O4 | |
| Molar mass | 346.467 g/mol |
Except where otherwise noted, data are given for materials in their standard state (at 25 °C [77 °F], 100 kPa).
| |
Marker of 21-hydroxylase deficiency
21-deoxycortisol is a marker of congenital adrenal hyperplasia due to 21-hydroxylase deficiency,[2][1][3] even in mild (non-classic) cases.[4][5] It can be also used for newborn screening.[6]
The deficiency of the 21-hydroxylase enzyme leads to excess of 17α-hydroxyprogesterone,[7][8] 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[7] via 11β-hydroxylase (CYP11B1).[1] 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".[9][10] 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.[11]
The corticosteroid activity of 21-deoxycortisol is lower than that of cortisol.[12][13]
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,[14][15][16] resulting in a falsely normal or high cortisol result, when the true cortisol is actually low. Whereas immunoassays can suffer from cross-reactivity due to interactions with structural analogues, the selectivity offered by liquid chromatography-tandem mass spectrometry (LC-MS/MS) has largely overcome these limitations.[17][18][19] Hence, the use of LC-MS/MS instead of immunoassays in cortisol measurement aims to provide greater specificity.[20]
Besides 21-deoxycortisol, another C21 steroid, 21-deoxycorticosterone (11β-hydroxyprogesterone), has been proposed as a marker for 21-hydroxylase deficiency,[21][22][23] but this marker did not gain acceptance due to the fact that testing for the levels of this steroid is not routinely offered by diagnostic laboratories.[24]