Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey.

Denkboy Ongen Y., Eren E. , Demirbas O., Sobu E., Ellard S., Tarim Ö. F. , ...More

Journal of clinical research in pediatric endocrinology, vol.13, pp.80-87, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13
  • Publication Date: 2021
  • Doi Number: 10.4274/jcrpe.galenos.2020.2020.0093
  • Title of Journal : Journal of clinical research in pediatric endocrinology
  • Page Numbers: pp.80-87
  • Keywords: Neonatal diabetes, genetic, sulfonylurea, monogenic diabetes, potassium channel, syndromic neonatal diabetes, SULFONYLUREA TREATMENT, ACTIVATING MUTATIONS, KIR6.2, MELLITUS, INSULIN


Objective: 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.