hrp0097p1-245 | Diabetes and Insulin | ESPE2023

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. Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of 13 mmol/l was detected. Insulin therapy was not prescribed due to the parent’s refu...

hrp0097p2-64 | Diabetes and Insulin | ESPE2023

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

Sechko Elena , Raykina Elizaveta , Kuraeva Tamara , Laptev Dmitriy , 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 class="ab...