Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma

Area of Science:

• Endocrinology and Genetics
• Investigates the genetic basis of diabetes mellitus.
• Focuses on monogenic forms of diabetes.

Background:

• Monogenic diabetes accounts for 1%-2% of global diabetes cases, stemming from single gene defects.
• Over 50 genetic disorders are linked to monogenic diabetes, yet diagnoses and management are often inadequate due to low clinician awareness.
• The spectrum includes maturity-onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM), alongside other forms like mitochondrial diabetes and genetic insulin resistance.

Discussion:

• Current diagnostic and management strategies for monogenic diabetes are insufficient, highlighting a critical need for increased clinician awareness.
• Phenotypic and biochemical assessments are crucial for identifying potential MODY candidates for genetic screening.
• Immediate molecular genetic testing is recommended for infants diagnosed with NDM within the first six months of life.

Key Insights:

• Identifying specific genetic defects in monogenic diabetes enables personalized treatment strategies, aligning with precision medicine principles.
• Research into cost-effective genetic testing and gene-based therapies is vital for improving diagnosis and clinical outcomes.
• Discovering novel genes associated with monogenic diabetes provides invaluable insights into pancreatic beta-cell biology and diabetes pathogenesis.

Outlook:

• Advancements in genetic testing technologies and gene-based therapies are expected to enhance the identification and management of monogenic diabetes.
• Further research into the genetic underpinnings of monogenic diabetes will deepen our understanding of pancreatic cell function.
• Continued exploration of new genes will contribute to unraveling the pathogenic mechanisms of both monogenic and common forms of diabetes.