Searchable abstracts of presentations at key conferences in endocrinology

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 ...