Identification of a novel hepatocyte nuclear factor-1 alpha ( HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY)

Abstract

Summary

We identified an adolescent young woman with new-onset diabetes. Due to suspicious family history, she underwent genetic testing for common monogenic diabetes (MODY) genes. We discovered that she and her father carry a novel variant of uncertain significance in the HNF1A gene. She was successfully transitioned from insulin to a sulfonylurea with excellent glycemic control. Based on her family history and successful response to sulfonylurea, we propose that this is a novel pathogenic variant in HNF1A. This case highlights the utility of genetic testing for MODY, which has the potential to help affected patients control their diabetes without insulin.

Learning points

• HNF1A mutations are a common cause of monogenic diabetes in patients presenting with early-onset diabetes and significant family history.

• Genetic testing in suspected patients allows for the identification of mutations causing monogenic diabetes.

• First-degree relatives of the affected individual should be considered for genetic testing.

• The use of sulfonylurea agents in patients with HNF1A-MODY can reduce dependence on insulin therapy and provide successful glycemic control.