Novel Insight into Etiology, Diagnosis and Management of Primary Adrenal Insufficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293110" target="_blank" >RIV/00064203:_____/14:10293110 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10293110
Result on the web
<a href="http://dx.doi.org/10.1159/000363107" target="_blank" >http://dx.doi.org/10.1159/000363107</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1159/000363107" target="_blank" >10.1159/000363107</a>
Alternative languages
Result language
angličtina
Original language name
Novel Insight into Etiology, Diagnosis and Management of Primary Adrenal Insufficiency
Original language description
Primary adrenal insufficiency (PAI) is a rare condition in childhood which is either inherited (mostly) or acquired. It is characterized by glucocorticoid and maybe mineralocorticoid deficiency. The most common form in children is 21-hydroxylase deficiency, which belongs to the steroid biosynthetic defects causing PAI. Newer forms of complex defects of steroid biosynthesis are P450 oxidoreductase deficiency and (apparent) cortisone reductase deficiency. Other forms of PAI include metabolic disorders, autoimmune disorders and adrenal dysgenesis, e.g. the IMAGe syndrome, for which the underlying genetic defect has been recently identified. Newer work has also expanded the genetic causes underlying isolated, familial glucocorticoid deficiency (FGD). Mildmutations of CYP11A1 or StAR have been identified in patients with FGD. MCM4 mutations were found in a variant of FGD in an Irish travelling community manifesting with PAI, short stature, microcephaly and recurrent infections. Finally, mu
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Hormone Research in Paediatrics
ISSN
1663-2818
e-ISSN
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Volume of the periodical
82
Issue of the periodical within the volume
3
Country of publishing house
CH - SWITZERLAND
Number of pages
13
Pages from-to
145-157
UT code for WoS article
000345448500002
EID of the result in the Scopus database
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