Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep406 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Combination of mutations in the HNF1A and ABCC8 genes: Clinical polymorphism in members of the same family

Eremina Irina , Raykina Elizaveta , Titovich Elena , Peterkova Valentina , Laptev Dmitry

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea, but over time, patients may need insulin therapy.Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of ...

ea0090ep450 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Combination of mutations in the HNF1A and ABCC8 genes: clinical polymorphism in members of the same family

Eremina Irina , Raykina Elizaveta , Titovich Elena , Peterkova Valentina , Laptev Dmitry

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea, but over time, patients may need insulin therapy.Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of ...