Endocrine Abstracts

JOINT918

Maturity onset diabetes of the young (MODY) is a non-insulin dependent variant of diabetes mellitus characterized by autosomal dominant pattern of inheritance. It is commonly seen amongst the younger population with typical features of early onset diabetes, strong family history of diabetes in multiple generations and mild fasting hyperglycemia or fluctuating glucose levels without severe complications (e.g., acidosis). Many are mistakenly treated as type 1 or type 2 diabetes for years. Of the 14 types, MODY 5 is a lesser common variant caused by HNF1β mutation and is associated with organ anomalies. We describe here a 13-year old asymptomatic patient presented similarly with elevated blood sugars at a primary clinic. Her father and 3 siblings were diabetic and mother had hypothyroidism suggesting a strong history. She was treated as prediabetes (HbA1c 6.4%) with lifestyle modifications. Months later the patient continued to have elevated blood sugar levels (HbA1c 8%) and type I diabetic mellitus was suspected. The patient was started on Degludec to 16 Units and Lispro to 6 Units with 3 meals and advised to test for autoantibodies like Glutamic Acid Decarboxylase Antibodies (GAD) & Islet cell Antibodies (ICA) which resulted negative. MODY was suspected and genetic testing revealed HNF1β mutation. All other investigations were unremarkable. All her family members, Father and two sisters with type one diabetes and brother with type two diabetes, had negative genetic screening. Currently the patient is maintaining normal sugar levels on degludec and semaglutide with HbA1c 6.6% and latest time in Target/Time in Range is 88% with 11% Time in High in Orange Color. Patients with typical features of MODY like strong family history of diabetes and hyperglycemia without acidosis should be genetically screened to avoid delay in diagnosis and management like organ anomalies. Early disease intervention can improve outcomes for affected individuals.