21-Deoxycortisol (BioDeep_00000001280)

Main id: BioDeep_00000637521

 

human metabolite Endogenous blood metabolite Volatile Flavor Compounds


代谢物信息卡片


(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

化学式: C21H30O4 (346.214398)
中文名称: 21-脱氧皮质醇
谱图信息: 最多检出来源 () 0%

分子结构信息

SMILES: CC(=O)C1(CCC2C1(CC(C3C2CCC4=CC(=O)CCC34C)O)C)O
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

描述信息

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), another genetic disorder. 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).
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]
D006730 - Hormones, Hormone Substitutes, and Hormone Antagonists > D006728 - Hormones

同义名列表

17 个代谢物同义名

(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; 11β,17α-Dihydroxy-4-pregnene-3,20-dione; 11beta,17alpha-dihydroxy-4-pregnene-3,20-dione; 4-Pregnene-11β,17α-diol-3,20-dione; 4-Pregnene-11beta,17alpha-diol-3,20-dione; 11β,17α-Dihydroxyprogesterone; 11b,17-Dihydroxy-pregn-4-ene-3,20-dione; 11b,17a-Dihydroxypregn-4-ene-3,20-dione; Pregn-4-ene-11b,17a-diol-3,20-dione; 11b,17-Dihydroxy-progesterone; 11b,17a-Dihydroxyprogesterone; 21-Dehydrohydrocortisone; 21-Deoxyhydrocortisone; 21-Desoxycortisol; 21-Deoxycortisol; BCP11149; 21-Deoxycortisol



数据库引用编号

19 个数据库交叉引用编号

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1 个相关的代谢反应过程信息。

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  • PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
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  • Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
  • Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。

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文献列表

  • Flávia A Costa-Barbosa, Valdemir M Carvalho, Kelly C Oliveira, José Gilberto H Vieira, Claudio E Kater. Reassessment of predictive values of ACTH-stimulated serum 21-deoxycortisol and 17-hydroxyprogesterone to identify CYP21A2 heterozygote carriers and nonclassic subjects. Clinical endocrinology. 2021 10; 95(4):677-685. doi: 10.1111/cen.14550. [PMID: 34231242]
  • Silvia M Albillos, Olimpio Montero, Sara Calvo, Berta Solano-Vila, José M Trejo, Esther Cubo. Plasma acyl-carnitines, bilirubin, tyramine and tetrahydro-21-deoxycortisol in Parkinson's disease and essential tremor. A case control biomarker study. Parkinsonism & related disorders. 2021 10; 91(?):167-172. doi: 10.1016/j.parkreldis.2021.09.014. [PMID: 34649109]
  • Simon Travers, Claire Bouvattier, Jérôme Fagart, Laetitia Martinerie, Say Viengchareun, Eric Pussard, Marc Lombès. Interaction between accumulated 21-deoxysteroids and mineralocorticoid signaling in 21-hydroxylase deficiency. American journal of physiology. Endocrinology and metabolism. 2020 02; 318(2):E102-E110. doi: 10.1152/ajpendo.00368.2019. [PMID: 31821037]
  • A E Kulle, F G Riepe, J Hedderich, W G Sippell, J Schmitz, L Niermeyer, P M Holterhus. LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers. European journal of endocrinology. 2015 Oct; 173(4):517-24. doi: 10.1530/eje-14-1084. [PMID: 26315375]
  • Clemens Kamrath, Michaela F Hartmann, Claudia Boettcher, Stefan A Wudy. Reduced activity of 11β-hydroxylase accounts for elevated 17α-hydroxyprogesterone in preterms. The Journal of pediatrics. 2014 Aug; 165(2):280-4. doi: 10.1016/j.jpeds.2014.04.011. [PMID: 24862381]
  • Flávia A Costa-Barbosa, Vânia F Tonetto-Fernandes, Valdemir M Carvalho, Odete H Nakamura, Vivian Moura, Tânia A S S Bachega, José G H Vieira, Claudio E Kater. Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency. Clinical endocrinology. 2010 Dec; 73(6):700-6. doi: 10.1111/j.1365-2265.2010.03871.x. [PMID: 20846292]
  • Vânia Tonetto-Fernandes, Sofia H V Lemos-Marini, Maricilda P De Mello, Luciane M Ribeiro-Neto, Claudio E Kater. 21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency. Journal of pediatric endocrinology & metabolism : JPEM. 2008 May; 21(5):487-94. doi: 10.1515/jpem.2008.21.5.487. [PMID: 18655532]
  • N S Sieber-Ruckstuhl, F S Boretti, M Wenger, C Maser-Gluth, C E Reusch. Cortisol, aldosterone, cortisol precursor, androgen and endogenous ACTH concentrations in dogs with pituitary-dependant hyperadrenocorticism treated with trilostane. Domestic animal endocrinology. 2006 Jul; 31(1):63-75. doi: 10.1016/j.domaniend.2005.09.004. [PMID: 16233969]
  • Vania Tonetto-Fernandes, Sofia H V Lemos-Marini, Hilton Kuperman, Luciane M Ribeiro-Neto, Ieda T N Verreschi, Claudio E Kater. 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. The Journal of clinical endocrinology and metabolism. 2006 Jun; 91(6):2179-84. doi: 10.1210/jc.2005-1890. [PMID: 16551734]
  • K Müssig, S Kaltenbach, C Maser-Gluth, M F Hartmann, S A Wudy, M Horger, B Gallwitz, F Raue, H-U Häring, E Schulze. Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association. 2006 Apr; 114(4):208-14. doi: 10.1055/s-2006-924072. [PMID: 16705555]
  • P C Kao, D A Machacek, M J Magera, J M Lacey, P Rinaldo. Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. Annals of clinical and laboratory science. 2001 Apr; 31(2):199-204. doi: . [PMID: 11337910]
  • J Fiet, A Boudi, F Giton, J M Villette, P Boudou, H Soliman, G Morineau, H Galons. Plasma 21-deoxycortisol: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunossay using (125)iodine. The Journal of steroid biochemistry and molecular biology. 2000 Jan; 72(1-2):55-60. doi: 10.1016/s0960-0760(99)00151-x. [PMID: 10731638]
  • J L Sadoul, B Kézachian, S Altare, Y Hadjali, B Canivet. Apparent activities of 21-hydroxylase, 17alpha-hydroxylase and 17,20-lyase are impaired in adrenal incidentalomas. European journal of endocrinology. 1999 Sep; 141(3):238-45. doi: 10.1530/eje.0.1410238. [PMID: 10474121]
  • H Blanché, P Vexiau, S Clauin, I Le Gall, J Fiet, E Mornet, J Dausset, C Bellanné-Chantelot. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. Human genetics. 1997 Nov; 101(1):56-60. doi: 10.1007/s004390050586. [PMID: 9385370]
  • M Hill, O Lapcík, R Hampl, L Stárka, Z Putz. Radioimmunoassay of three deoxycorticoids in human plasma following HPLC separation. Steroids. 1995 Sep; 60(9):615-20. doi: 10.1016/0039-128x(95)00060-4. [PMID: 8545850]
  • D J Holmes-Walker, G S Conway, J W Honour, G Rumsby, H S Jacobs. Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinical endocrinology. 1995 Sep; 43(3):291-6. doi: 10.1111/j.1365-2265.1995.tb02034.x. [PMID: 7586597]
  • J Fiet, J P Gosling, H Soliman, H Galons, P Boudou, P Aubin, A Belanger, J M Villette, R Julien, J L Brérault. Hirsutism and acne in women: coordinated radioimmunoassays for eight relevant plasma steroids. Clinical chemistry. 1994 Dec; 40(12):2296-305. doi: . [PMID: 7988017]
  • J Fiet, J M Villette, H Galons, P Boudou, J M Burthier, N Hardy, H Soliman, R Julien, P Vexiau, M Gourmelen. The application of a new highly-sensitive radioimmunoassay for plasma 21-deoxycortisol to the detection of steroid-21-hydroxylase deficiency. Annals of clinical biochemistry. 1994 Jan; 31 ( Pt 1)(?):56-64. doi: 10.1177/000456329403100110. [PMID: 8154853]
  • A Milewicz, A Afelska, R Wasikowa, T Romer. Evaluation of 21-deoxycortisol as a marker for the detection of heterozygous carriers of 21-hydroxylase deficiency. Endokrynologia Polska. 1993; 44(2):187-93. doi: . [PMID: 8055790]
  • A A Ismail, W A Burr, N F Taylor, P L Walker. Elevated plasma adrenocorticotropin (ACTH) with adrenal hyperplasia: a new factor in ACTH regulation?. The Journal of clinical endocrinology and metabolism. 1991 Oct; 73(4):752-7. doi: 10.1210/jcem-73-4-752. [PMID: 1653782]
  • J Fiet, B Gueux, M C Raux-Demay, F Kuttenn, P Vexiau, M Gourmelen, P Couillin, E Mornet, J M Villette, J L Brerault. [21-deoxycortisol. A new marker of virilizing adrenal hyperplasia caused by 21-hydroxylase deficiency]. Presse medicale (Paris, France : 1983). 1989 Dec; 18(40):1965-9. doi: . [PMID: 2531882]
  • K Nahoul, J Adeline, J P Bercovici. Radioimmunoassay of plasma 21-deoxycortisol. Journal of steroid biochemistry. 1989 Dec; 33(6):1167-72. doi: 10.1016/0022-4731(89)90426-3. [PMID: 2615362]
  • W M Hague, J W Honour, J Adams, P Vecsei, H S Jacobs. Steroid responses to ACTH in women with polycystic ovaries. Clinical endocrinology. 1989 Apr; 30(4):355-65. doi: 10.1111/j.1365-2265.1989.tb00433.x. [PMID: 2532082]
  • J Fiet, B Gueux, M C Raux-DeMay, F Kuttenn, P Vexiau, J L Brerault, P Couillin, H Galons, J M Villette, R Julien. 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. 1989 Mar; 68(3):542-7. doi: 10.1210/jcem-68-3-542. [PMID: 2537337]
  • J Fiet, B Gueux, M Gourmelen, F Kuttenn, P Vexiau, P Couillin, M T Pham-Huu-Trung, J M Villette, M C Raux-Demay, H Galons. Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia. The Journal of clinical endocrinology and metabolism. 1988 Apr; 66(4):659-67. doi: 10.1210/jcem-66-4-659. [PMID: 2831244]
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  • M Gourmelen, B Gueux, M T Pham Huu Trung, J Fiet, M C Raux-Demay, F Girard. Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement. Acta endocrinologica. 1987 Dec; 116(4):507-12. doi: 10.1530/acta.0.1160507. [PMID: 2827419]
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