ESPE Abstracts

Maturity onset diabetes of the young (MODY) is a clinically heterogeneous disorder characterized by noninsulin-dependent diabetes diagnosed at a young age (<25 years) with autosomal dominant transmission and absence of pancreatic autoantibodies. Due to the relatively low prevalence in the general population and atypical clinical manifestations, MODY is often misdiagnosed with type 1 diabetes and type 2 diabetes. Currently, distinguishing MODY from type 1 and type 2 diabetes is still challenging for clinicians. We report 14 years old girl in an obese family. She presented with overweight (BMI 23.6 kg/m²), hypertension, and acanthosis nigricans. A fasting blood glucose was elevated and her HbA1c was 13%. Her mother has type 2 diabetes at 40 years old. At the first admission, she was diagnosed with type 2 diabetes. Insulin and metformin treatment was started. Because of side effect of metformin, we stopped it and replace with diamicron. According to ADA recommendations, we discontinued insulin after glycemic control. Then, the patient failed to reach recommended glycemic goals. After calculating the probability of a girl’s MODY based on a MODY calculator with 9 criteria: diagnosed age, current age, BMI, HbA1C, being on insulin or medication, time of insulin treatment, population race, parental history, and associated syndromes, we found a probability up to 75%, thus she was consulted for genetic testing. She has a heterozygous mutation in the PAX4 c772-3del gene, a mutation in the intron region. PAX4 is an important regulator of early pancreatic development in the embryonic stage and plays an important role in the differentiation and development of islet β -cells. Insulin therapy was restarted and her glycemia improved. To our knowledge, the present case demonstrates that a mutation of PAX4 is likely to be associated with diabetes and it is the first case to be reported in Vietnam. Following the reclassification of the diabetes subtype, her family has received genetic testing counseling.