ESPE Abstracts

Maturity onset diabetes of the young (MODY) is a rare type of non-autoimmune diabetes mellitus which usually present in young adulthood. An estimated prevalence was 1.2% within the pediatric diabetic population. To date it has been proposed that pathogenic variants in at least 14 genes cause MODY. Among these genes, most cases result from mutations in HNF1A (MODY3), GCK (MODY2), HNF4A (MODY1) and HNF1B (MODY5). The patient is a 13-year-old, previously healthy, nonobese female with no past medical history without weight loss, polydipsia, nocturia, and polyphagia. However, strong family history of diabetes was reported with mother, grandfather in mother. Her height and weight were 155.3 cm and 44.8 kg, respectively, and her body mass index was 18.7kg/m² at the 25th percentile for age and sex. Her vital signs were within normal limits, her blood pressure was not elevated, and she was well-appearing. Her screening lipid panel was within normal limits (cholesterol 190 mg/dl, high-density lipoprotein 70mg/dl, low-density lipoprotein 107 mg/dl, and triglycerides 73 mg/dL). HbA1c was significant for a value of 9.5% and all islet cell autoantibody screen and all other screening labs returned as negative. Urinalysis showed no evidence of acidosis or urine ketones except glycosuria. In the setting of new-onset diabetes, a negative islet cell autoantibody screen and a family history of autosomal dominant diabetes, a diagnosis of MODY was suspected. Next generation sequencing was sent and revealed a heterozygous mutation in HNF1A gene designated c.788G>A (P.Arg263His) consistent with MODY3 which was not reported previously. In silico predictions (SIFT, PolyPhen, and MutationTaster) were predicted to be deleterious. The patient’s glycemic control has been started with intensive insulin therapy, and plan to change to sulfonylurea to reduce microvascular comorbidities and maintain the glycemic control successfully. We present a case of a 13-year-old previously healthy female with a multigenerational family history of diabetes diagnosed with MODY due to a mutation in HNF1A. In families with 2 or more generations of diabetes, there should be a low threshold for asymptomatic screening with a serum HbA1c. Early diagnosis and appropriate management can aid in preventing potentially irreversible consequences of undiagnosed, persistent hyperglycemia.