Successful Transition to Sulfonylurea for Relapsed Monogenic Diabetes Due to Rare 6q23.3 Duplication

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Transient neonatal diabetes mellitus (TNDM) is typically linked to 6q duplication, presenting in early infancy and often recurring in adolescence or adulthood.
• Insulin therapy is the standard initial treatment for TNDM associated with chromosome 6 abnormalities.
• The potential for using insulin secretagogues exists in relapsed TNDM cases due to preserved beta-cell function after remission.

Observation:

• This report details the first known instance of TNDM caused by a rare 6q23.3 duplication.
• A patient with this rare duplication experienced diabetes recurrence in adolescence.
• The patient was successfully transitioned from insulin to sulfonylurea (SU) treatment upon diabetes reemergence.

Findings:

• Successful transition from insulin to sulfonylureas was achieved in a patient with TNDM secondary to 6q23.3 duplication.
• Sulfonylurea treatment led to improved glycemic control compared to insulin therapy.
• The switch to sulfonylureas also enhanced cost-effectiveness and patient quality of life, while reducing hypoglycemia.

Implications:

• This case highlights the potential efficacy of sulfonylureas in managing relapsed TNDM, even in rare genetic forms.
• Transitioning to sulfonylureas may offer a more manageable and effective long-term treatment strategy for select TNDM patients.
• The findings suggest a broader applicability of sulfonylureas for TNDM management beyond the commonly associated 6q24 duplication.