Congenital Adrenal Hyperplasia Research 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes
ConclusionThe employed methodologies identified a considerable number of individuals with non-pathogenic p.Gln319Ter from the individuals that typically carry the pathogenic p.Gln319Ter in a single CYP21A2. Therefore, it is extremely important the detection of such haplotypes for the prenatal diagnosis, treatment and genetic counseling in patients with CAH. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - May 31, 2023 Category: Endocrinology Source Type: research
Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal Hyperplasia
CONCLUSION: A high number of subjects showed abnormalities in glucose metabolism. Two-thirds had elevated total 24h glucose values outside the age-appropriate reference values. Thus, this aspect may need to be addressed early in life by adjusting the doses, treatment regimen or dietary measures. Consequently, reverse circadian therapy regimens should be critically indicated and closely monitored due to the potential metabolic risk.PMID:37218136 | DOI:10.4274/jcrpe.galenos.2023.2023-3-5 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 23, 2023 Category: Endocrinology Authors: Ilja Dubinski Susanne Bechtold-Dalla Pozza Belana Debor Hannah Franziska Nowotny Nicole Reisch Lea Tschaidse Heinrich Schmidt Source Type: research
