Endocrine Abstracts

The diagnosis of atypical non-autoimmune forms of diabetes mellitus, such as maturity onset diabetes of the young (MODY) presents several challenges, in view of the extensive clinical and genetic heterogeneity of the disease. In this report we describe a case of atypical non autoimmune diabetes associated with a damaging HNF1β mutation. A 39-years-old woman with normal weight (BMI 20’8 kg/m²), endometriosis, ex-smoker, fatty liver and uterus bicornis unicollis surgery performed 10 years before was consulted to the emergency department complaining of fever and tachycardia. The blood test evidenced leukocytosis, high inflammation markers (fibrinogen and C-reactive protein) and glucose levels (487 mg/dl), without venous blood gas alterations. Urine test showed positive nitrites, ketone bodies and bacteriuria, and a urinary tract infection was diagnosed. The patient was admitted to Internal Medicine department for antibiotics and to perform a complete study. It revealed high glycosilated hemoglobine (HbA1c) levels (11’8%), and revieweing last 10 years blood tests, impaired fasting glycemia was found. Ecography revealed multiple renal cysts. Asking about symptoms of hyperglycemia, the patient referred polyuria, polydipsia and weightloss over the last 3 months. Six days later, there was no sign of infection neither complication, glucose levels became normal and she felt better. The patient performed a short-term diabetes education program and was discharged with multiple-dose insulin injection therapy. Two weeks later, negative antibodies for GAD and islet cell antibodies (ICA) and low C-peptide leves were obtained, suggesting a low insuline secretory reserve, and she was diagnosed with a type 2 diabetes. The patient referred a paternal history of diabetes (grandfather, grandmother and uncle) but she could not specify the type of diabetes neither the establishment age. Because of that multiple-dose insulin injection therapy was replaced by a basal insuline dose and a combination of metformin and dipeptidyl peptidase-4 inhibitor (iDPP4) was introduced. Three months later the patient reduced 60 percent of the total daily insuline dose, HbA1c levels became normal (5’2%) and fasting capillary blood glucose were under 100 mg/dl. Because all of that we applied for a genetic testing for MODY, that shown a HNF1β de-novo mutation (her mother and sister were negative for the mutation, her father would not perform the test). The optimal care for patients with MODY-5 is multidisciplinary and involves obstetricians, endocrinologists, geneticists and nephrologists. That’s why from our point of view all of them should be aware of this condition due to its potential complications.