21-Deoxycortisol

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21-Deoxycortisol
21-Deoxycortisol.svg
Names
Preferred 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; 11β,17α-Dihydroxypregn-4-ene-3,20-dione
Identifiers
  • 641-77-0 checkY
3D model (JSmol)
ChEBI
ChEMBL
ChemSpider
KEGG
UNII
  • InChI=1S/C21H30O4/c1-12(22)21(25)9-7-16-15-5-4-13-10-14(23)6-8-19(13,2)18(15)17(24)11-20(16,21)3/h10,15-18,24-25H,4-9,11H2,1-3H3/t15-,16-,17-,18+,19-,20-,21-/m0/s1
    Key: LCZBQMKVFQNSJR-UJPCIWJBSA-N
  • CC(=O)[C@]1(CC[C@@H]2[C@@]1(C[C@@H]([C@H]3[C@H]2CCC4=CC(=O)CC[C@]34C)O)C)O
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).
Infobox references

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]

Marker of 21-hydroxylase deficiency[]

21-deoxycortisol is a marker of congenital adrenal hyperplasia due to 21-hydroxylase deficiency,[1][2] even in mild (non-classic) cases.[3] The deficiency of the 21-hydroxylase enzyme leads to excess of 17α-hydroxyprogesterone,[4][5] 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[4] 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".[6][7] 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.[8]

The corticosteroid activity of 21-deoxycortisol is lower to that of cortisol.[9][10]

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,[11][12][13] 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.[14][15] Hence, the use of LC-MS/MS instead of immunoassays in cortisol measurement aims to provide greater specificity.[16]

Besides 21-deoxycortisol, another C21 steroid, 21-deoxycorticosterone (11β-hydroxyprogesterone), has been proposed as a marker for 21-hydroxylase deficiency,[17][18][19] 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.[20]

See also[]

References[]

  1. ^ a b c Cristoni S, Cuccato D, Sciannamblo M, Bernardi LR, Biunno I, Gerthoux P, Russo G, Weber G, Mora S (2004). "Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring". Rapid Commun. Mass Spectrom. 18 (1): 77–82. Bibcode:2004RCMS...18...77C. doi:10.1002/rcm.1284. PMID 14689562.
  2. ^ Miller, W. L. (2019). "Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol". Hormone Research in Paediatrics. 91 (6): 416–420. doi:10.1159/000501396. PMID 31450227. S2CID 201733086.
  3. ^ Oriolo, C.; Fanelli, F.; Castelli, S.; Mezzullo, M.; Altieri, P.; Corzani, F.; Pelusi, C.; Repaci, A.; Di Dalmazi, G.; Vicennati, V.; Baldazzi, L.; Menabò, S.; Dormi, A.; Nardi, E.; Brillanti, G.; Pasquali, R.; Pagotto, U.; Gambineri, A. (2020). "Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone". Journal of Endocrinological Investigation. 43 (10): 1499–1509. doi:10.1007/s40618-020-01235-3. PMID 32236851. S2CID 214715756.
  4. ^ a b Turcu, A. F.; Rege, J.; Chomic, R.; Liu, J.; Nishimoto, H. K.; Else, T.; Moraitis, A. G.; Palapattu, G. S.; Rainey, W. E.; Auchus, R. J. (2015). "Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency". The Journal of Clinical Endocrinology and Metabolism. 100 (6): 2283–2290. doi:10.1210/jc.2015-1023. PMC 4454804. PMID 25850025.
  5. ^ Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, et al. (November 2018). "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". The Journal of Clinical Endocrinology and Metabolism. 103 (11): 4043–4088. doi:10.1210/jc.2018-01865. PMC 6456929. PMID 30272171.
  6. ^ JAILER JW; GOLD JJ; VANDE WIELE R; LIEBERMAN S (1955). "17alpha-hydroxyprogesterone and 21-desoxyhydrocortisone; their metabolism and possible role in congenital adrenal virilism". The Journal of Clinical Investigation. 34 (11): 1639–46. doi:10.1172/JCI103217. PMC 438744. PMID 13271547.
  7. ^ El-Farhan N, Rees DA, Evans C (May 2017). "Measuring cortisol in serum, urine and saliva - are our assays good enough?". Annals of Clinical Biochemistry. 54 (3): 308–322. doi:10.1177/0004563216687335. PMID 28068807. S2CID 206397561.
  8. ^ Merke DP, Auchus RJ (September 2020). "Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency". The New England Journal of Medicine. 383 (13): 1248–1261. doi:10.1056/NEJMra1909786. PMID 32966723. S2CID 221884108.
  9. ^ P. J. Bentley (1980). Endocrine Pharmacology: Physiological Basis and Therapeutic Applications. CUP Archive. pp. 158–. ISBN 978-0-521-22673-8.
  10. ^ Engels M, Pijnenburg-Kleizen KJ, Utari A, Faradz SM, Oude-Alink S, van Herwaarden AE, Span PN, Sweep FC, Claahsen-van der Grinten HL (November 2019). "Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia". The Journal of Clinical Endocrinology and Metabolism. 104 (11): 5065–5072. doi:10.1210/jc.2019-00547. PMID 31090904.
  11. ^ Winter WE, Bazydlo L, Harris NS (2012). "Cortisol - Clinical Indications and Laboratory Testing". AACC Clinical Laboratory News. Archived from the original on 2018-01-04.
  12. ^ Krasowski MD, Drees D, Morris CS, Maakestad J, Blau JL, Ekins S (2014). "Cross-reactivity of steroid hormone immunoassays: clinical significance and two-dimensional molecular similarity prediction". BMC Clinical Pathology. 14 (33): 33. doi:10.1186/1472-6890-14-33. PMC 4112981. PMID 25071417.
  13. ^ Agrawal, N.; Chakraborty, P. P.; Sinha, A.; Maiti, A. (2020). "False elevation of serum cortisol in chemiluminescence immunoassay by Siemens Advia Centaur XP system in 21-hydroxylase deficiency: An 'endocrine laboma'". BMJ Case Reports. 13 (9): e235450. doi:10.1136/bcr-2020-235450. PMC 7477984. PMID 32900728. S2CID 221567576.
  14. ^ Kurtoğlu, Selim; Hatipoğlu, Nihal (7 March 2017). "Non-Classical Congenital Adrenal Hyperplasia in Childhood". Journal of Clinical Research in Pediatric Endocrinology. 9 (1): 1–7. doi:10.4274/jcrpe.3378. PMC 5363159. PMID 27354284.
  15. ^ Hawley JM, Keevil BG (September 2016). "Endogenous glucocorticoid analysis by liquid chromatography-tandem mass spectrometry in routine clinical laboratories". The Journal of Steroid Biochemistry and Molecular Biology. 162: 27–40. doi:10.1016/j.jsbmb.2016.05.014. PMID 27208627. S2CID 206501499.
  16. ^ D'aurizio F, Cantù M (September 2018). "Clinical endocrinology and hormones quantitation: the increasing role of mass spectrometry". Minerva Endocrinologica. 43 (3): 261–284. doi:10.23736/S0391-1977.17.02764-X. PMID 29083134. S2CID 12984040.
  17. ^ Gueux, B.; Fiet, J.; Galons, H.; Boneté, R.; Villette, J. M.; Vexiau, P.; Pham-Huu-Trung, M. T.; Raux-Eurin, M. C.; Gourmelen, M.; Brérault, J. L. (1987). "The measurement of 11 beta-hydroxy-4-pregnene-3,20-dione (21-deoxycorticosterone) by radioimmunoassay in human plasma". Journal of Steroid Biochemistry. 26 (1): 145–50. doi:10.1016/0022-4731(87)90043-4. PMID 3546944.
  18. ^ Fiet, J.; Gueux, B.; Raux-Demay, M. C.; Kuttenn, F.; Vexiau, P.; Brerault, J. L.; Couillin, P.; Galons, H.; Villette, J. M.; Julien, R. (1989). "Increased plasma 21-deoxycorticosterone (21-DB) levels in late-onset adrenal 21-hydroxylase deficiency suggest a mild defect of the mineralocorticoid pathway". The Journal of Clinical Endocrinology and Metabolism. 68 (3): 542–7. doi:10.1210/jcem-68-3-542. PMID 2537337.
  19. ^ Fiet, J.; Le Bouc, Y.; Guéchot, J.; Hélin, N.; Maubert, M. A.; Farabos, D.; Lamazière, A. (2017). "A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia". Journal of the Endocrine Society. 1 (3): 186–201. doi:10.1210/js.2016-1048. PMC 5686660. PMID 29264476.
  20. ^ Sarathi, V.; Atluri, S.; Pradeep, T. V.; Rallapalli, S. S.; Rakesh, C. V.; Sunanda, T.; Kumar, K. D. (2019). "Utility of a Commercially Available Blood Steroid Profile in Endocrine Practice". Indian Journal of Endocrinology and Metabolism. 23 (1): 97–101. doi:10.4103/ijem.IJEM_531_18. PMC 6446682. PMID 31016162.

External links[]



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