Endocrine Abstracts

Introduction: Hepatocyte nuclear factor 1A MODY (HNF1A-MODY) is the most common form of Maturity-onset diabetes of the young (MODY) diagnosed in adults. It is caused by heterozygous mutations in the HNF1A gene and is associated with progressive β-cell failure and increasing hyperglycemia due to reduced insulin secretion. HNF1A-MODY is characterized by a large phenotypic variability. We herein report the case of a 40-year-old diabetic woman who was identified as having mutation of the HNF1A gene, after repeated hypoglycemia under insulin therapy.

Case report: A 40-year-old woman was admitted to our diabetology department for the management ofuncontrolled diabetes due to an abrupt withdrawal of insulin therapy. She had a family history of diabetes on oral antidiabetics in her mother and her two paternal aunts. Her diabetes was discovered at the age of 24 year old by an asymptomatic glycosuria. She was put at the age of 27 year-old, during her first pregnancy, under insulin therapy. After delivery, the patient reported recurrent hypoglycemia and an important weight gain despite lowering the dose of insulin. She had extremely poor glycemic control secondary to non-compliance with insulin and her glycated hemoglobin (HbA1c) ranged between 9% and 11.5%. Assays of antiglutamic acid decarboxylase (anti-GAD) and anti-islet antigen 2 (anti-IA2) antibodies were performed during hospitalization and were negative. A C-peptide testing, concomitant with normal glucose level, was normal (0.8 ng/ml). The molecular study identified a novel truncating mutation in the HNF1A gene (P.Gly292fs). The patient treated by a low dose of sulfonylureas (Gliclazide 30 mg) and an Inhibitors of dipeptidyl peptidase 4 (sitaglipitin 100 mg) with a good glycemic control and the absence of recurrent hypoglycemia.

Conclusion: Our case showed the interest of evoking the diagnosis of HNF1A diabetes in the presence of recurrent hypoglycemia under low dose of insulin in a diabetic person.