Type 2 Diabetes in a Patient With IMAGe Syndrome Secondary to Polymerase Epsilon Pathogenic Variants

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• IMAGe syndrome is a rare genetic disorder caused by pathogenic variants in the POLE gene.
• Patients with IMAGe syndrome often have adrenal hypoplasia congenita, requiring lifelong glucocorticoid therapy.

Observation:

• A 22-year-old female with POLE-mediated IMAGe syndrome was diagnosed with type 2 diabetes.
• The patient presented with hyperglycemia and elevated HbA1c, despite normal insulin levels and no signs of insulin resistance.

Findings:

• Continuous glucose monitoring revealed significant postprandial hyperglycemia.
• The patient was initially treated with insulin and later transitioned to sitagliptin.

Implications:

• This case highlights the potential link between POLE-mediated IMAGe syndrome and type 2 diabetes.
• Further research is needed to understand the pathophysiology and determine if type 2 diabetes is a consistent phenotype.
• Management of glucocorticoid therapy in these patients requires careful consideration to mitigate the risk of insulin resistance.