Version 2.77

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
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
21DC DBS-mCnc
Display Name
21-Deoxycortisol (DBS) [Mass/Vol]
Consumer Name Alpha Get Info
21-Deoxycortisol, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
54075-7 Endocrine newborn screening panel (SI units)
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8 Mucopolysaccharidosis type II newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group Group Name
LG43267-0 21-Deoxycortisol|Pt|Bld.dot

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) 21-Deoxicortisol:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) 21-desoxicortisol:Concentración de masa:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) 21-deoksükortisool:MCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) 21-désoxycortisol:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) 21-déoxycortisol:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) 21-déoxycortisol:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) 21-Deossicortisolo:MCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) 21-deoxycortisol:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) 21-Deoxicortisol:MCnc:Pt:SgPapel:Qn:
Synonyms: ; 21DC; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU Russian (Russian Federation) 21-Дезоксикортизол:МассКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR Turkish (Turkey) 21-Deoksikortizol:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 21-脱氧皮质醇:质量浓度:时间点:全血.斑点:定量型:
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 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 水平;浓度;质量浓度(单位体积) 血;血液

Example Units

Unit Source
ug/dL Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53341-4