Show simple item record

dc.contributor.authorDenkboy Öngen, Yasemin
dc.contributor.authorEren, Erdal
dc.contributor.authorDemirbaş, Özgecan
dc.contributor.authorSobu, Elif
dc.contributor.authorEllard, Sian
dc.contributor.authorDe Franco, Elisa
dc.contributor.authorTarım, Ömer
dc.date.accessioned2021-10-01T12:21:23Z
dc.date.available2021-10-01T12:21:23Z
dc.date.issued2021-02-26
dc.identifier.citationDenkboy Öngen, Y. et al. (2021) ‘Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey.’, Journal of clinical research in pediatric endocrinology, 13(1), pp. 80–87. doi: 10.4274/jcrpe.galenos.2020.2020.0093.
dc.identifier.pmid32820876
dc.identifier.doi10.4274/jcrpe.galenos.2020.2020.0093
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/622060
dc.description.abstractOBJECTIVE: Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center METHODS: A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated. RESULTS: The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had KCNJ11 mutations, six had ABCC8 mutations, three had EIF2AK3 mutations, and one had a de novo INS mutation. All the permanent NDM patients with KCNJ11 and ABCC8 mutations were started on sulfonylurea treatment resulting in a significant increase in C-peptide level, better glycemic control, and discontinuation of insulin. CONCLUSION: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients.
dc.language.isoeng
dc.publisherGalenos
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/32820876/
dc.rights©Copyright 2021 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/
dc.subject*genetic
dc.subject*monogenic diabetes
dc.subject*Neonatal diabetes
dc.subject*potassium channel
dc.subject*sulfonylurea
dc.subject*syndromic neonatal diabetes
dc.titleGenotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey
dc.typeJournal Article
dc.identifier.journalJournal of clinical research in pediatric endocrinology
dc.identifier.pmcidPMC7947723
dc.description.noteThis article is freely available online. Click on the 'Additional Link' above to access the full-text via the publisher's site.
dc.type.versionPublished
dc.description.admin-noteUnknown


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

©Copyright 2021 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.
Except where otherwise noted, this item's license is described as ©Copyright 2021 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.