Endocrine Abstracts

Introduction: Monogenic diabetes is a rare type of diabetes that should be evoked in the presence of associated features. Here we report a female patient with complete phenotype of MODY5 while discussing its possible complications.

Case report: A.B was 35-year-old patient with a rich family history of diabetes and renal cysts. Sha had a personal medical history of Diabetes since the age of 23 years, on basal bolus insulin regimen, recurrent episodes of urinary infections, recurrent episodes of bilateral renal lithiasis. She also had a primary amenorrhea until the age of 23 years. Gynecologic evaluation concluded to a pseudounicornuate uterus requiring hemi hysterectomy at the age of 23 years. She was admitted in our Endocrinology department for a poorly-controlled diabetes. Upon her admission, she weighed 50 kg and had a BMI of 20.3 g/m². She had no signs of insulin resistance (no acanthosis nigricans nor abdominal obesity), neither autoimmune features (no vitiligo or melanoderma, nor goiter). Her HbA1c level was elevated 12 % attributable to poor adherence to her treatment s well as to diabetic diet and the recurrent urine infections. Her diabetes was complicated with severe proliferative diabetic retinopathy and sensitive diabetic neuropathy. Otherwise, she had hypomagnesemia and slightly elevated uric acid level. Her creatinine level was within the normal range. She also had elevated level of gamma-glutamyl transferase and aminotransferase. Given the family history and the association of renal cysts, renal lithiasis, young age of onset of diabetes with negative antibodies and uterine malformation, the diagnosis of MODY5 was highly suspected. Genetic testing is still ongoing. Abdominal MRI revealed the presence of an atrophic pancreas and intriguingly, pancreatic intraepithelial neoplasia (PIEN) in addition to signs suggesting chronic pancreatitis.

Discussion: This case highlights the broad clinical spectrum of MODY5 while suggesting a possible occurrence of precancerous pancreatic lesions requiring long-term follow-up. Pancreatic dysplasia often present in MODY 5 can be complicated with chronic pancreatitis and thus PIEN.