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Record Information
Version3.6
Creation Date2006-08-13 09:23:04 UTC
Update Date2016-02-11 01:06:32 UTC
HMDB IDHMDB04030
Secondary Accession NumbersNone
Metabolite Identification
Common Name21-Deoxycortisol
DescriptionPlasma 21-deoxycortisol (21DF) is an excellent marker of 21-hydroxylase deficiency. Currently, it is the only marker able to detect heterozygous carriers with 21-hydroxylase deficiency after Adrenocorticotropic Hormone (ACTH) stimulation. The syndrome of congenital adrenal hyperplasia (CAH) comprises the spectrum of autosomal recessive enzymatic disorders that impair cortisol biosynthesis. The hormonal pattern and clinical manifestations result from hyperstimulation of the adrenal cortex by excessive production of ACTH, untied from the negative feedback exerted by reduced cortisol levels, and the ultimate accumulation of F precursors and androgens. These abnormalities predispose the female newborn to ambiguous genitalia (female pseudohermaphroditism) and precocious puberty that may occur in both sexes. CAH due to 21-hydroxylase deficiency (21OHD) comprises nearly 90% of all cases, with an estimated worldwide incidence of 1 in 14,000 live births. Because 21-deoxycortisol (21DF) is an 11b-hydroxylase (11bOH) derivative of 17-hydroxyprogesterone (17OHP), its serum levels are parallel and proportionally elevated in patients with 21OHD but decreased or undetectable in those with 11b-hydroxylase deficiency (11bOHD). Due to the marked buildup of 17OHP in 21OHD, this precursor steroid can proceed directly to 11-hydroxylation, producing distinct elevations of 21DF. (PMID: 16551734 , 10731638 ).
Structure
Thumb
Synonyms
ValueSource
11b,17-Dihydroxy-pregn-4-ene-3,20-dioneHMDB
11b,17-Dihydroxy-progesteroneHMDB
11b,17a-Dihydroxypregn-4-ene-3,20-dioneHMDB
11b,17a-DihydroxyprogesteroneHMDB
21-DehydrohydrocortisoneHMDB
21-DeoxyhydrocortisoneHMDB
21-DesoxycortisolHMDB
4-Pregnene-11beta,17alpha-diol-3,20-dioneHMDB
Pregn-4-ene-11b,17a-diol-3,20-dioneHMDB
Chemical FormulaC21H30O4
Average Molecular Weight346.4605
Monoisotopic Molecular Weight346.214409448
IUPAC Name(1S,2R,10S,11S,14R,15S,17R)-14-acetyl-14,17-dihydroxy-2,15-dimethyltetracyclo[8.7.0.0²,⁷.0¹¹,¹⁵]heptadec-6-en-5-one
Traditional Name21-deoxycortisol
CAS Registry Number641-77-0
SMILES
[H][C@@]12CC[C@](O)(C(C)=O)[C@@]1(C)C[C@@H](O)[C@@]1([H])[C@@]2([H])CCC2=CC(=O)CC[C@]12C
InChI Identifier
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
InChI KeyInChIKey=LCZBQMKVFQNSJR-CZUPSRJTSA-N
Chemical Taxonomy
DescriptionThis compound belongs to the class of organic compounds known as gluco/mineralocorticoids, progestogins and derivatives. These are steroids with a structure based on a hydroxylated prostane moiety.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassSteroids and steroid derivatives
Sub ClassPregnane steroids
Direct ParentGluco/mineralocorticoids, progestogins and derivatives
Alternative Parents
Substituents
  • Progestogin-skeleton
  • 20-oxosteroid
  • 17-hydroxysteroid
  • 11-hydroxysteroid
  • 11-alpha-hydroxysteroid
  • Oxosteroid
  • Hydroxysteroid
  • 3-oxosteroid
  • 3-oxo-delta-4-steroid
  • Delta-4-steroid
  • Tertiary alcohol
  • Cyclic alcohol
  • Alpha-hydroxy ketone
  • Cyclic ketone
  • Secondary alcohol
  • Ketone
  • Hydrocarbon derivative
  • Organooxygen compound
  • Carbonyl group
  • Alcohol
  • Aliphatic homopolycyclic compound
Molecular FrameworkAliphatic homopolycyclic compounds
External DescriptorsNot Available
Ontology
StatusDetected and Quantified
Origin
  • Endogenous
  • Food
Biofunction
  • Cell signaling
  • Fuel and energy storage
  • Fuel or energy source
  • Hormones, Membrane component
  • Membrane integrity/stability
Application
  • Nutrients
  • Stabilizers
  • Surfactants and Emulsifiers
Cellular locations
  • Extracellular
  • Membrane (predicted from logP)
Physical Properties
StateSolid
Experimental Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
PropertyValueSource
Water Solubility0.06 mg/mLALOGPS
logP2.29ALOGPS
logP2.09ChemAxon
logS-3.8ALOGPS
pKa (Strongest Acidic)12.69ChemAxon
pKa (Strongest Basic)-2.8ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count4ChemAxon
Hydrogen Donor Count2ChemAxon
Polar Surface Area74.6 Å2ChemAxon
Rotatable Bond Count1ChemAxon
Refractivity95.7 m3·mol-1ChemAxon
Polarizability38.59 Å3ChemAxon
Number of Rings4ChemAxon
Bioavailability1ChemAxon
Rule of FiveYesChemAxon
Ghose FilterYesChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleYesChemAxon
Spectra
SpectraNot Available
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane (predicted from logP)
Biofluid Locations
  • Blood
Tissue Location
  • Adrenal Gland
  • Testes
Pathways
NameSMPDB LinkKEGG Link
11-beta-hydroxylase deficiency (CYP11B1)SMP00575Not Available
17-alpha-hydroxylase deficiency (CYP17)SMP00566Not Available
21-hydroxylase deficiency (CYP21)SMP00576Not Available
3-Beta-Hydroxysteroid Dehydrogenase DeficiencySMP00718Not Available
Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia due to 21-hydroxylase DeficiencySMP00373Not Available
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia due to 17 Alpha-hydroxylase DeficiencySMP00372Not Available
Apparent mineralocorticoid excess syndromeSMP00717Not Available
Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAHSMP00371Not Available
Corticosterone methyl oxidase I deficiency (CMO I)SMP00577Not Available
Corticosterone methyl oxidase II deficiency - CMO IISMP00578Not Available
SteroidogenesisSMP00130map00140
Normal Concentrations
BiofluidStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified0.0029 ( 0.0010 - 0.0079) uMNewborn (0-30 days old)BothNormal details
BloodDetected and Quantified0.00107 (0.00081 - 0.00124) uMAdult (>18 years old)Not SpecifiedNormal details
Abnormal Concentrations
BiofluidStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified0.0056 (0.0022-0.0149) uMNewborn (0-30 days old)Both
Preterm birth
details
BloodDetected and Quantified0.0054 +/- 0.008 uMAdult (>18 years old)Male
Bilateral testicular adrenal rest tumors
details
BloodDetected and Quantified0.00110 (0.00081 - 0.00196) uMAdult (>18 years old)Both11-beta-Hydroxylase deficiency details
BloodDetected and Quantified0.00234 (0.00008-0.04071) uMAdult (>18 years old)Not Specified21-Hydroxylase deficiency details
BloodDetected and Quantified0.048 (0.014 - 0.320) uMNewborn (0-30 days old)Not Specified
Congenital adrenal hyperplasia
details
Associated Disorders and Diseases
Disease References
11-beta-hydroxylase deficiency
  1. Tonetto-Fernandes V, Lemos-Marini SH, Kuperman H, Ribeiro-Neto LM, Verreschi IT, Kater CE: Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2006 Jun;91(6):2179-84. Epub 2006 Mar 21. [16551734 ]
21-hydroxylase deficiency
  1. Tonetto-Fernandes V, Lemos-Marini SH, Kuperman H, Ribeiro-Neto LM, Verreschi IT, Kater CE: Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2006 Jun;91(6):2179-84. Epub 2006 Mar 21. [16551734 ]
Congenital adrenal hyperplasia
  1. Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J: Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab. 2007 Jul;92(7):2581-9. Epub 2007 Apr 24. [17456574 ]
Testicular adrenal rest tumors
  1. Claahsen-van der Grinten HL, Otten BJ, Sweep FC, Span PN, Ross HA, Meuleman EJ, Hermus AR: Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue. J Clin Endocrinol Metab. 2007 Sep;92(9):3674-80. Epub 2007 Jun 26. [17595257 ]
Preterm birth
  1. Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J: Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab. 2007 Jul;92(7):2581-9. Epub 2007 Apr 24. [17456574 ]
Associated OMIM IDs
  • 201910 (21-hydroxylase deficiency)
  • 201910 (Congenital adrenal hyperplasia )
  • 202010 (11-beta-hydroxylase deficiency)
DrugBank IDNot Available
DrugBank Metabolite IDNot Available
Phenol Explorer Compound IDNot Available
Phenol Explorer Metabolite IDNot Available
FoodDB IDFDB023283
KNApSAcK IDNot Available
Chemspider ID193458
KEGG Compound IDC05497
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
NuGOwiki LinkHMDB04030
Metagene LinkHMDB04030
METLIN ID7004
PubChem Compound222803
PDB IDNot Available
ChEBI IDNot Available
References
Synthesis ReferenceHill, Martin; Lapcik, Oldrich; Hampl, Richard; Starka, Luboslav; Putz, Zdenek. Radioimmunoassay of three deoxycorticoids in human plasma following HPLC separation. Steroids (1995), 60(9), 615-20.
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Solish SB, Goldsmith MA, Voutilainen R, Miller WL: Molecular characterization of a Leydig cell tumor presenting as congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1989 Dec;69(6):1148-52. [2555382 ]
  2. Gueux B, Fiet J, Couillin P, Raux-Demay MC, Mornet E, Galons H, Villette JM, Boue J, Dreux C: Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid. J Clin Endocrinol Metab. 1988 Mar;66(3):534-7. [3258316 ]
  3. Finkelstein M, Litvin Y, Mizrachi Y, Neiman G, Rosler A: Apparent double defect in C11 beta and C21-steroid hydroxylation in congenital adrenal hyperplasia. J Steroid Biochem. 1983 Jul;19(1B):675-81. [6310249 ]
  4. Penny R, Vecsei P: Congenital adrenal hyperplasia due to combined 21- and 11 beta-hydroxylase deficiency. J Endocrinol Invest. 1989 Nov;12(10):723-8. [2614011 ]
  5. Fiet J, Gueux B, Raux-Demay MC, Kuttenn F, Vexiau P, Gourmelen M, Couillin P, Mornet E, Villette JM, Brerault JL, et al.: [21-deoxycortisol. A new marker of virilizing adrenal hyperplasia caused by 21-hydroxylase deficiency] Presse Med. 1989 Dec 2;18(40):1965-9. [2531882 ]
  6. Tonetto-Fernandes V, Lemos-Marini SH, Kuperman H, Ribeiro-Neto LM, Verreschi IT, Kater CE: Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2006 Jun;91(6):2179-84. Epub 2006 Mar 21. [16551734 ]
  7. Fiet J, Boudi A, Giton F, Villette JM, Boudou P, Soliman H, Morineau G, Galons H: Plasma 21-deoxycortisol: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunossay using (125)iodine. J Steroid Biochem Mol Biol. 2000 Jan-Feb;72(1-2):55-60. [10731638 ]

Enzymes

General function:
Involved in monooxygenase activity
Specific function:
Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.
Gene Name:
CYP11B1
Uniprot ID:
P15538
Molecular weight:
57572.44
Reactions
17-Hydroxyprogesterone + Reduced ferredoxin + Oxygen → 21-Deoxycortisol + Oxidized ferredoxin + Waterdetails
General function:
Involved in monooxygenase activity
Specific function:
Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty.
Gene Name:
CYP17A1
Uniprot ID:
P05093
Molecular weight:
57369.995
Reactions
21-Deoxycortisol + Acceptor + Water → 11b-Hydroxyprogesterone + Reduced acceptor + Oxygendetails
General function:
Involved in monooxygenase activity
Specific function:
Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and 18-hydroxycorticosterone.
Gene Name:
CYP11B2
Uniprot ID:
P19099
Molecular weight:
57559.62
Reactions
17-Hydroxyprogesterone + Reduced ferredoxin + Oxygen → 21-Deoxycortisol + Oxidized ferredoxin + Waterdetails
General function:
Involved in monooxygenase activity
Specific function:
Not Available
Gene Name:
P450-CYP21B
Uniprot ID:
Q16874
Molecular weight:
56000.9
General function:
Involved in monooxygenase activity
Specific function:
Not Available
Gene Name:
CYP21A2
Uniprot ID:
Q08AG9
Molecular weight:
55972.9
General function:
Not Available
Specific function:
Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids.
Gene Name:
CYP21A2
Uniprot ID:
P08686
Molecular weight:
56000.94
Reactions
21-Deoxycortisol + Reduced acceptor + Oxygen → Hydrocortisone + Acceptor + Waterdetails