Monogenic diabetes clinic (MDC): 3-year experience

Area of Science:

• Pediatric Endocrinology
• Clinical Genetics
• Diabetes Mellitus Research

Background:

• Type 1 diabetes mellitus (T1D) is common in pediatric clinics, but monogenic diabetes subtypes account for ~6% of cases.
• Monogenic diabetes may have different treatment responses and prognoses compared to T1D.
• Accurate diagnosis is crucial for appropriate management and to avoid complications.

Purpose of the Study:

• To establish a dedicated Monogenic Diabetes Clinic (MDC) for improved diagnostic pipelines.
• To provide tailored care for pediatric patients with monogenic diabetes.
• To differentiate monogenic diabetes from autoimmune diabetes in children.

Main Methods:

• A retrospective review of patients referred to the MDC over three years.
• Genetic testing was performed on patients with non-autoimmune hyperglycemia.
• Analysis of genetic variants and correlation with clinical presentation and family history.

Main Results:

• 97 patients with non-autoimmune hyperglycemia were referred; 68 had available genetic reports.
• Genetic variants were identified in 45.5% of patients (31/68).
• Higher diagnostic yield was observed in younger children (<1 year) and those with a family history of hyperglycemia.

Conclusions:

• The Monogenic Diabetes Clinic (MDC) demonstrates potential in improving diabetes care for pediatric patients.
• Early identification of monogenic diabetes enables targeted therapies.
• MDC facilitates specialized management distinct from typical T1D care.