AB131. Genotype, phenotype of transient neonatal diabetes mellitus

Background and objective Transient neonatal diabetes mellitus (TNDM) is a rare but remarkable form of diabetes which presents in infancy, resolves in the first months of life, but then frequently recurs in later life. It is caused by overexpression of the imprinted genes PLAGL1 and HYMAI on human chromosome 6q24, ABCC8 or KCNJ11 mutation. Over half of patients with maternal hypomethylation at the TNDM1 locus have additional hypomethylation of other maternally methylated imprinted genes throughout the genome, and the majority of these patients havemutations in the transcription factor ZFP57. This article aims to describe clinical features and laboratory manifestations of patient with TNDM and evaluate outcome of management.