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 ...

ea0090ep304 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Neonatal diabetes mellitus in a patient with a novel heterozygous mutation in GATA6

Sechko Elena , Raykina Elizaveta , Kuraeva Tamara , Laptev Dmitry , Bezlepkina Olga , Peterkova Valentina

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p ...