74872-321-Deoxycortisol [Mass/volume] in Serum or PlasmaActive
Part Description
LP65144-5 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], [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
Fully-Specified Name
- Component
- 21-Deoxycortisol
- Property
- MCnc
- Time
- Pt
- System
- Ser/Plas
- Scale
- Qn
- Method
Additional Names
- Short Name
- 21DC SerPl-mCnc
- Display Name
- 21-Deoxycortisol [Mass/Vol]
- Consumer Name Alpha
- 21-Deoxycortisol, Blood
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common US Lab Results Rank
- 15418
Member of these Groups
LG43265-4 | 21-Deoxycortisol| |
Language Variants Get Info
- zh-CNChinese (China)
- 21-脱氧皮质醇:
质量浓度: 时间点: 血清/血浆: 定量型: - nl-NLDutch (Netherlands)
- 21-deoxycortisol:
massa/volume: moment: serum of plasma: kwantitatief: - et-EEEstonian (Estonia)
- 21-deoksükortisool:
MCnc: Pt: S/P: Qn: - fr-BEFrench (Belgium)
- 21-déoxycortisol:
Concentration de masse: Temps ponctuel: Sérum/Plasma: Quantitatif: - fr-CAFrench (Canada)
- 21-désoxycortisol:
Concentration de masse: Temps ponctuel: Sérum/Plasma: Quantitatif: - fr-FRFrench (France)
- 21-déoxycortisol:
Masse/Volume: Ponctuel: Sérum/Plasma: Numérique: - it-ITItalian (Italy)
- 21-Deossicortisolo:
MCnc: Pt: Siero/Plasma: Qn: - pt-BRPortuguese (Brazil)
- 21-Deoxicortisol:
: Pt: Soro/Plas: Qn: - ru-RURussian (Russian Federation)
- 21-Дезоксикортизол:
МассКонц: ТчкВрм: Сыв/Плаз: Колич: - es-MXSpanish (Mexico)
- 21-desoxicortisol:
Concentración de masa: Punto temporal: Suero o Plasma: Cuantitativo: - es-ESSpanish (Spain)
- 21-Deoxicortisol:
Concentración de masa: Punto temporal: Suero o Plasma: Qn: - tr-TRTurkish (Turkey)
- 21-Deoksikortizol:
KütlKons: Zmlı: Ser/Plaz: Kant:
Example Units
Unit | Source |
---|---|
ng/dL | Example UCUM Units |
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=74872-3
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