Endocrine Abstracts

Introduction: Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous type of diabetes mellitus, characterized by early onset (often before 25 years of age) and absence of pancreatic autoimmunity markers.

Case: We report a 20 years old female diagnosed with type 1 diabetes at age 18, with positive glutamic acid decarboxylase antibodies and low C peptide level. She had no history of diabetic ketoacidosis or hypoglycemia. Her parents did not have Diabetes, however her mother had a history of gestational diabetes. Insulin treatment was started at age of 18 (only Glargine), she was taking insulin for 3 months and her hyperglycemia improved then she stopped insulin by her own for more than a month. No Osmatic symptoms or no DKA episode happened after omission of her insulin, her home blood glucose levels were oscillating between 200 and 400 mg/dl. Her HbA1c ranged from 8 to 10% without being on any form of insulin or oral hypoglycemic agent. Then, a blood test was sent for genetic screening of monogenic diabetes, and turn out positive for MODY (Heterozygous in the PAX4 gene). Afterwards she was commenced on glimepiride 2 mg her blood glucose subsequently improved. 3 months later her HbA1c impressively improved to 6.6%.

Conclusion: We present a case of PAX4 gene mutation with an early-onset diabetes mellitus, manifests as transcription factor which is a member of PAX family located on chromosome 7 and regulates fetal development, also represses th PAX4 is required for the regeneration of β-cells in adults and its mutation blocks or inhibits β-cell proliferation. Two PAX4 gene mutations were reported as the cause of monogenetic form of diabetes in Thai population termed MODY 9. To our knowledge, the present case demonstrates that a novel mutation of PAX4 is likely to be associated with diabetes and it is the first case to be reported in the Middle East and United Arab Emiratis.