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

Damla Gökşen1, Ediz Yeşilkaya2, Samim Özen1

  • 1Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey

Journal of Clinical Research in Pediatric Endocrinology
|July 12, 2021
PubMed

Insights

This study identified GCK-MODY as the most common monogenic diabetes in Turkish children, differing from global trends. Researchers analyzed clinical and genetic data to understand the distribution of this rare diabetes form.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Monogenic diabetes results from single-gene defects affecting pancreatic beta-cell function, leading to hyperglycemia.
  • It represents a heterogeneous group of disorders distinct from type 1 and type 2 diabetes.
  • Understanding the specific genetic forms and their prevalence is crucial for accurate diagnosis and management.

Purpose of the Study:

  • To determine the clinical and laboratory features of monogenic diabetes in Turkish children.
  • To analyze the admission characteristics and genetic distribution of monogenic diabetes in this pediatric population.
  • To compare the findings with existing international literature on monogenic diabetes subtypes.

Main Methods:

  • A cohort of pediatric patients (0-18 years) with molecularly confirmed monogenic diabetes in Turkey was studied.
  • Clinical data, laboratory values (HbA1c, glucose, insulin, C-peptide), and genetic testing results were collected.
  • Diagnostic criteria included random blood glucose, family history, and presence of ketones.

Main Results:

  • The study included 169 children (mean age 8.18 years), with 52.7% diagnosed via random blood glucose.
  • Glucokinase-Maturity Onset Diabetes of the Young (GCK-MODY) was the most frequent subtype (59.2%), followed by HNF1A-MODY (18.3%).
  • This distribution contrasts with literature where HNF1A-MODY is typically more prevalent.

Conclusions:

  • GCK-MODY is the predominant form of monogenic diabetes in the studied Turkish pediatric cohort.
  • The genetic landscape of monogenic diabetes in Turkey differs from global patterns, highlighting the need for region-specific data.
  • Further research is warranted to elucidate the implications of this distinct distribution for clinical practice.
Abstract

Keywords:
early-onset diabetesnext-generation sequencingGCKHNF1AMonogenic diabetes

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