LP65144-5
21-Deoxycortisol
Active
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
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP65144-5 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP65144-5
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | 21-脱氧皮质醇 Synonyms: 21DC; |
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 |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright