Dr. Sanjay Agarwal: It wasn’t Type 1 diabetes, it was MODY!

Case Overview

Challenging cases come once in a while, such is this one, where a 12-year old boy visited Dr. Sanjay Agarwal. His history dates back-in-time to his 8th year; his HbA1c was 10 at that time, and he was diagnosed with Type 1 Diabetes. He was on an insulin therapy with a frequency of four in a day. At the time of history taking, chief complaints were that of polyuria, polyphagia, polyphagia. There were no ketosis and other medical problems. Questions on family history revealed early onset of diabetes in mother and grandmother.

Diagnosis

Laboratory evaluations revealed serum fasting C-peptide of 3.6 ng/mL and serum post-prandial C-peptide of 7 ng/mL. Reports of GAD antibodies were negative. Since the features of laboratory reports were not suggestive of T1DM, molecular genetic workup was done. In the meanwhile, when the genetic reports were generated, patient was advised to continue with insulin therapy. After 3 months, the reports of genetic workup was sent to Chennai for further evaluations. The patient had tested positive for the MODY 3 mutation. This is a maternally inherited mutation. Although MODY can be confusing and it can be classified as either type 1 or type 2 diabetes; it is more like the former. Here is an article from Harvard Health Publishing that provides more information on MODY.

Report of Molecular Genetic Investigation

Treatment and Result

The line of treatment was changed to OHA, sulfonylureas. Patient’s blood glucose level in now better controlled with HbA1c of 7.2. There were no complaints of hypoglycemia either.