LOINC
Version 2.73

LP65144-521-DeoxycortisolActive

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

Basic Part Properties

Name
21-Deoxycortisol
Type
Component
Created On
2007-09-06
Construct for LOINC Short Name
21DC

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP65144-5

Language Variants Get Info

zh-CNChinese (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
nl-NLDutch (Netherlands)
21-deoxycortisol
et-EEEstonian (Estonia)
21-deoksükortisool
fr-BEFrench (Belgium)
21-déoxycortisol
fr-CAFrench (Canada)
21-désoxycortisol
it-ITItalian (Italy)
21-Deossicortisolo
ru-RURussian (Russian Federation)
21-Дезоксикортизол
es-ESSpanish (Spain)
21-Deoxicortisol
tr-TRTurkish (Turkey)
21-Deoksikortizol