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 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13
  • Publication Date: 2021
  • Doi Number: 10.4274/jcrpe.galenos.2020.2020.0093
  • Journal Name: Journal of clinical research in pediatric endocrinology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • 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
  • Bursa Uludag University Affiliated: Yes

Abstract

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.