1.0 2011-09-21 00:27:26 UTC 2015-07-21 06:57:37 UTC FDB023283 21-Deoxycortisol Plasma 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) [HMDB] 11b,17-dihydroxy-Pregn-4-ene-3,20-dione 11b,17-dihydroxy-Progesterone 11b,17a-Dihydroxypregn-4-ene-3,20-dione 11b,17a-Dihydroxyprogesterone 21-Dehydrohydrocortisone 21-Deoxycortisol 21-Deoxyhydrocortisone 21-Desoxycortisol 4-Pregnene-11beta,17alpha-diol-3,20-dione Pregn-4-ene-11b,17a-diol-3,20-dione C21H30O4 346.4605 346.214409448 (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 21-deoxycortisol 641-77-0 [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=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 LCZBQMKVFQNSJR-CZUPSRJTSA-N 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. Gluco/mineralocorticoids, progestogins and derivatives Organic compounds Lipids and lipid-like molecules Steroids and steroid derivatives Pregnane steroids Aliphatic homopolycyclic compounds 11-alpha-hydroxysteroids 17-hydroxysteroids 20-oxosteroids 3-oxo delta-4-steroids Alpha-hydroxy ketones Cyclic alcohols and derivatives Cyclohexenones Delta-4-steroids Hydrocarbon derivatives Organic oxides Secondary alcohols Tertiary alcohols 11-alpha-hydroxysteroid 11-hydroxysteroid 17-hydroxysteroid 20-oxosteroid 3-oxo-delta-4-steroid 3-oxosteroid Alcohol Aliphatic homopolycyclic compound Alpha-hydroxy ketone Carbonyl group Cyclic alcohol Cyclic ketone Cyclohexenone Delta-4-steroid Hydrocarbon derivative Hydroxysteroid Ketone Organic oxide Organic oxygen compound Organooxygen compound Oxosteroid Progestogin-skeleton Secondary alcohol Tertiary alcohol Solid logp 2.29 ALOGPS logs -3.76 ALOGPS solubility 5.96e-02 g/l ALOGPS logp 2.09 ChemAxon pka_strongest_acidic 12.69 ChemAxon pka_strongest_basic -2.8 ChemAxon iupac (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 ChemAxon average_mass 346.4605 ChemAxon mono_mass 346.214409448 ChemAxon 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 ChemAxon formula C21H30O4 ChemAxon inchi 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 ChemAxon inchikey LCZBQMKVFQNSJR-CZUPSRJTSA-N ChemAxon polar_surface_area 74.6 ChemAxon refractivity 95.7 ChemAxon polarizability 38.59 ChemAxon rotatable_bond_count 1 ChemAxon acceptor_count 4 ChemAxon donor_count 2 ChemAxon physiological_charge 0 ChemAxon formal_charge 0 ChemAxon Steroidogenesis SMP00130 map00140 Specdb::CMs 17529 Specdb::CMs 38687 Specdb::CMs 149454 Specdb::MsMs 304801 Specdb::MsMs 304802 Specdb::MsMs 304803 Specdb::MsMs 348097 Specdb::MsMs 348098 Specdb::MsMs 348099 Specdb::MsMs 2795906 Specdb::MsMs 2795907 Specdb::MsMs 2795908 Specdb::MsMs 2887115 Specdb::MsMs 2887116 Specdb::MsMs 2887117 HMDB04030 #<Reference:0x000055ce31bd2220> #<Reference:0x000055ce31bd2068> #<Reference:0x000055ce31bd1eb0> #<Reference:0x000055ce31bd1cf8> #<Reference:0x000055ce31bd1b40> #<Reference:0x000055ce31bd1988> #<Reference:0x000055ce31bd17d0> Anatidae Type 1 specific Anatidae 8830 Beefalo Type 1 specific Bos taurus X Bison bison 297284 Bison Type 1 specific Bison bison 9901 Buffalo Type 1 specific Bubalus bubalis 89462 Cattle (Beef, Veal) Type 1 specific Bos taurus 9913 Chicken Type 1 specific Gallus gallus 9031 Columbidae (Dove, Pigeon) Type 1 specific Columbidae 8930 Deer Type 1 specific Cervidae 9850 Domestic goat Type 1 specific Capra aegagrus hircus 9925 Domestic pig Type 1 specific Sus scrofa domestica 9825 Elk Type 1 specific Cervus canadensis 1574408 Emu Type 1 specific Dromaius novaehollandiae 8790 European rabbit Type 1 specific Oryctolagus 9984 Greylag goose Type 1 specific Anser anser 8843 Guinea hen Type 1 specific Numida meleagris 8996 Horse Type 1 specific Equus caballus 9796 Mallard duck Type 1 specific Anas platyrhynchos 8839 Mountain hare Type 1 specific Lepus timidus 62621 Mule deer Type 1 specific Odocoileus 9871 Ostrich Type 1 specific Struthio camelus 8801 Pheasant Type 1 specific Phasianus colchicus 9054 Quail Type 1 specific Phasianidae 9005 Rabbit Type 1 specific Leporidae 9979 Rock ptarmigan Type 1 specific Lagopus muta 64668 Sheep (Mutton, Lamb) Type 1 specific Ovis aries 9940 Squab Type 1 specific Columba 8931 Turkey Type 1 specific Meleagris gallopavo 9103 Velvet duck Type 1 specific Melanitta fusca 371864 Wild boar Type 1 specific Sus scrofa 9823 Cytochrome P450 21-hydroxylase Q16874 P450-CYP21B Cytochrome P450, family 21, subfamily A, polypeptide 2 Q08AG9 CYP21A2