21-Deoxycortisol

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21-Deoxycortisol
2D structure for 21-Deoxycortisol
Chemical Name	(8S,9S,10R,13S,14S,17R)-17-acetyl-11,17-dihydroxy-10,13-dimethyl-2,6,7,8,9,11,12,14,15,16-decahydro-1H-cyclopenta[a]phenanthren-3-one
Chemical Formula	C₂₁H₃₀O₄
CAS Number	641-77-0
Chemical Information	HMDB04030
Biochemical Taxonomy	Steroids and Steroid Derivatives
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Not Available
Biofluid Location	Blood
Tissue Location	Testis Adrenal Gland
Normal Biofluid Concentrations	Blood: 0.003 ( 0.001 - 0.008) uM Blood: 0.037 (0.028 - 0.043) uM
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	11�-hydroxylase deficiency 21-Hydroxylase deficiency Infants with 21-Hydroxylase Deficiency (CYP21) Newborns with gestational age < 28 weeks (Preterm) Patients with bilateral testicular adrenal rest tumors with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Other (Monogenic Disorders)	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency OMIM: 202010
Abnormal Biofluid Concentrations	Blood (11�-hydroxylase deficiency): 0.038 (0.028 - 0.068) uM Blood (21-Hydroxylase deficiency): 0.81 (0.03 - 14.1) uM Blood (Infants with 21-Hydroxylase Deficiency (CYP21)): 0.05 (0.014 - 0.32) uM Blood (Newborns with gestational age < 28 weeks (Preterm)): 0.0056 (0.0022 - 0.015) uM Blood (Patients with bilateral testicular adrenal rest tumors with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency): 0.0054 +/- 0.008 uM
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

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Introduction

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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)

Biological Function

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Catabolism

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Diseases / Conditions Related to Nutrition

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11�-hydroxylase deficiency
21-Hydroxylase deficiency
Infants with 21-Hydroxylase Deficiency (CYP21)
Newborns with gestational age < 28 weeks (Preterm)
Patients with bilateral testicular adrenal rest tumors with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency