Fifteen-minute consultation: Monogenic forms of diabetes with onset after age 6 months

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Emma M Dyer1, Rakesh Amin2

  • 1Department of Paediatrics, Lewisham University Hospital, London, UK.

Archives of Disease in Childhood. Education and Practice Edition
|July 30, 2017
PubMed

Insights

Monogenic diabetes, caused by single gene mutations, can be misdiagnosed. Early identification is crucial for appropriate treatment and genetic counseling.

Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Monogenic diabetes, including Maturity Onset Diabetes of the Young (MODY), results from autosomal dominant single gene mutations affecting pancreatic beta cell function.
  • Accurate diagnosis is essential as these forms of diabetes are often misidentified as type 1 or type 2 diabetes.

Observation:

  • Children with monogenic diabetes may present with clinical features that mimic other diabetes types.
  • Misdiagnosis can lead to suboptimal treatment strategies and missed opportunities for genetic screening.

Findings:

  • Specific clinical features can aid physicians in differentiating monogenic diabetes from other subtypes.
  • Diagnostic tools are available to support the identification and management of monogenic diabetes.

Implications:

  • Correctly identifying monogenic diabetes impacts treatment decisions, genetic counseling, and family member screening.
  • Understanding these genetic forms of diabetes improves patient prognosis and management strategies.

Keywords:
DiabetesDiagnosisEndocrinologyGeneticsMODYMonogenic Diabetes

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