P-391: Monogenic diabetes (MODY) in resource-limited settings: when to suspect it?a case report
B Badan, H Camilo-Saleh, C NeujorksAbstract
Introduction
Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes.It is inherited in an autosomal dominant pattern and is characterized by pancreatic β-cell dysfunction in the absence of autoimmunity.MODY is frequently misdiagnosed as type 1 or type 2 diabetes, which can lead to suboptimal or inappropriate treatment.Accurate and timely diagnosis is critical, particularly in resource-limited settings where access to specialized testing may be constrained.
Objectives
To present a case of MODY and highlight the importance of precise diagnosis in enabling individualized management and optimizing healthcare resource utilization.
Methods
A 13-year-old patient was initially diagnosed with tyipe 1 diabetes after a random glucose level of 564 mg/dL in the absence of ketoacidosis, and was started on insulin therapy.During follow-up, insulin requirements progressively decreased to 0.15IU/kg/day. Clinical and biochemical features pointed to the diagnosis, including negative autoantibodies, preserved C-peptide levels, absence of obesity, low insulin requirement, and a MODY probability score of 75.5%.Insulin therapy was subsequently discontinued, and continuous glucose monitoring was initiated.Over a 15-day period,99% of glucose values were within the target range, with 1% hypoglycemia.Mean glucose was 86 mg/dL, with a coefficient of variation of 14.6%.
Results
The clinical presentation and glycemic profile were consistent with glucokinase a form of MODY caused by mutations in the glucose-sensing enzyme of pancreatic β-cells.This condition is characterized by mild, stable, non-progressive hyperglycemia and a low risk of complications.
Conclusions
This case highlights the importance of considering MODY in atypical diabetes presentations.Accurate diagnosis enables discontinuation of unnecessary therapy and supports individualized management.However, limited access to genetic testing remains a significant barrier in public healthcare systems.