First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F16%3A10324242" target="_blank" >RIV/00669806:_____/16:10324242 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11140/16:10324242
Result on the web
<a href="http://dx.doi.org/10.1515/jpem-2015-0255" target="_blank" >http://dx.doi.org/10.1515/jpem-2015-0255</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1515/jpem-2015-0255" target="_blank" >10.1515/jpem-2015-0255</a>
Alternative languages
Result language
angličtina
Original language name
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic
Original language description
We characterized a case of congenital adrenal insufficiency caused by cholesterol side-chain cleavage enzyme (P450scc) deficiency. We confirmed primary adrenal insufficiency. The mutation was confirmed in the CYP11A1 gene. So far, only 19 patients with CYP11A1 mutations causing P450scc deficiency have been reported worldwide.
Czech name
—
Czech description
—
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
—
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Pediatric Endocrinology and Metabolism
ISSN
0334-018X
e-ISSN
—
Volume of the periodical
29
Issue of the periodical within the volume
6
Country of publishing house
GB - UNITED KINGDOM
Number of pages
4
Pages from-to
749-752
UT code for WoS article
000377568100019
EID of the result in the Scopus database
2-s2.0-84973125274