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Monogenic diabetes: A single center experience from South India

Nivethitha Karthika Lakshmanan1, Praveen V Pavithran1, Nisha Bhavani1

  • 1Department of Endocrinology, Amrita Institute of Medical Sciences (AIMS), Cochin, Kerala, India.

Pediatric Diabetes
|May 18, 2020
PubMed

Insights

Pediatric monogenic diabetes in India is often misdiagnosed. This study characterized 37 children with neonatal diabetes mellitus, MODY, and syndromic diabetes, highlighting the need for accurate genetic diagnosis in Indian children with diabetes.

Area of Science:

  • Pediatric Endocrinology
  • Clinical Genetics
  • Metabolic Disorders

Background:

  • Monogenic diabetes in children is frequently misclassified as type 1 or type 2 diabetes.
  • Limited data exists on pediatric monogenic diabetes within the Indian population.
  • Accurate diagnosis is crucial for appropriate management and genetic counseling.

Purpose of the Study:

  • To characterize the clinical, biochemical, and genetic profiles of pediatric monogenic diabetes cases in South India.
  • To address the paucity of literature on monogenic diabetes in Indian children.
  • To improve diagnostic accuracy and understanding of diverse monogenic diabetes subtypes.

Main Methods:

  • Retrospective analysis of case records from 2008-2019.
  • Inclusion of 37 children diagnosed with monogenic diabetes at a tertiary care center.
  • Detailed clinical, biochemical, and genetic evaluations were performed.

Main Results:

  • The study identified 37 cases of pediatric monogenic diabetes.
  • Diagnoses included neonatal diabetes mellitus (15), MODY (5), and syndromic forms (17).
  • Syndromic cases comprised Wolfram syndrome, H syndrome, mitochondrial diabetes, and thiamine-responsive megaloblastic anemia.

Conclusions:

  • Monogenic diabetes presents diverse phenotypes in Indian children.
  • Genetic characterization is essential to differentiate monogenic forms from common diabetes types.
  • This study provides valuable insights into pediatric monogenic diabetes in India.

Keywords:
Wolfram syndromemonogenic diabetesneonatal diabetes mellitussyndromic diabetes

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