Version 2.77

Description

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, PMID: 10731638 Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, 21-Deoxycortisol

Basic Part Properties

Part Display Name
21-Deoxycortisol
Part Type
Component (Describes the core component or analyte measured)
Created On
2007-09-06
Construct for LOINC Short Name
21DC

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 21-脱氧皮质醇
Synonyms: 21DC;21-脱氧可的索;21-脱氧氢化可的松;21-脱氧皮质甾醇;21-脱氧考的索
fr-CA French (Canada) 21-désoxycortisol
et-EE Estonian (Estonia) 21-deoksükortisool
es-ES Spanish (Spain) 21-Deoxicortisol
it-IT Italian (Italy) 21-Deossicortisolo
tr-TR Turkish (Turkey) 21-Deoksikortizol
ru-RU Russian (Russian Federation) 21-Дезоксикортизол
nl-NL Dutch (Netherlands) 21-deoxycortisol
fr-BE French (Belgium) 21-déoxycortisol