Assistant Professor Michigan state University Okemos, Michigan, United States
Introduction : Maturity onset diabetes of the young (MODY) is a clinically heterogeneous disorder characterized by diabetes diagnosed at a young age (< 25 years) with autosomal dominant transmission and lack of autoantibodies. It accounts for about 2-5% of Diabetes. Autosomal dominant mutations in HNF1B cause up to 1%‐2% of MODY cases.
Case(s) Description : We are describing a case of new onset diabetes in an adult male at the age of 23 after presenting to the hospital with DKA. After being discharged. He followed up in our clinic and his diabetes profile showed no known diabetes antibodies detected and low C-peptide levels. We considered the diagnosis of Maturity onset diabetes of the young (MODY) despite no known family history in this autosomal dominant condition. With the help of his parents, We did a careful retrospective review of his history and prior health issues. He had evidence of mild Hyperglycemia as early as 16 years old. He was born with a single kidney and grew up with intellectual disability and eventually diagnosed with Autistic spectrum disorder. A prior Abdomen CT scan showed no left kidney and that his pancreas can not be visualized. Prior blood chemistry showed elevated liver enzymes. All these features are known to be associated with MODY 5. Genetic testing revealed Heterozygous Full gene deletion of HNF1B gene. Patient was continued on insulin therapy with great control on follow up visits.
Discussion : MODY5 is characterised by a mutation in the HNF1B gene, which plays an important role in the development and function of multiple organs. It should be suspected in patients with unusual diabetes and multisystem involvement unrelated to diabetes. The presence of family history of similar features or known MODY is considered important in suspecting the diagnosis, but like in our case, many other cases has reported De Novo ( non-familial ) cases of MODY 5 that were misdiagnosed as either type 1 or type diabetes.
