Original Article

Molecular Diagnosis of Monogenic Diabetes and Their Clinical/Laboratory Features in Turkish Children

10.4274/jcrpe.galenos.2021.2021.0056

  • Damla Gökşen
  • Ediz Yeşilkaya
  • Samim Özen
  • Yılmaz Kor
  • Erdal Eren
  • Özlem Korkmaz
  • Merih Berberoğlu
  • Gülay Karagüzel
  • Eren Er
  • Ayhan Abacı
  • Olcay Evliyaoğlu
  • Emine Demet Akbaş
  • Edip Ünal
  • Semih Bolu
  • Özlem Nalbantoğlu
  • Ahmet Anık
  • Meltem Tayfun
  • Muammer Büyükinan
  • Saygın Abalı
  • Gülay Can Yılmaz
  • Deniz Kor
  • Elif Söbü
  • Zeynep Şıklar
  • Recep Polat
  • Şükran Darcan

Received Date: 07.03.2021 Accepted Date: 08.07.2021 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 34250910

Introduction:

Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study is to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood.

Method:

Patients aged 0-18, who were molecularly diagnosed with monogenic diabetes, and accepted to participate in the study, were included in the study.

Results:

77 female and 92 male cases with a mean age of 8.18 ± 5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean HbA1c in admission; fasting blood glucose, fasting insulin, c-peptide values were 7.3 ± 2.1%, 184.9 ±128.9 mg / dl; 9.4 ± 22.9 IU / L; 1.36 ± 1.1 ngm / L; respectively. GCK-MODY was found in 100 (59.2%) of the cases, HNF1A-MODY in 31 (18.3%), ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%).

Conclusion:

Recent studies have indicated HNF1A-MODY as the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY as the second most frequent with 32%. In our study, 59.2% of the patients were GCK, and 18.3% were HNF1A-MODY, despite the literature data.

Keywords: monogenic diabetes, early-onset diabetes, next-generation sequencing, GCK, HNF1A