Neonatal diabetes mellitus is a state of hyperglycemia accompanied by a low level of insulin, starting in the first six months of life and requiring insulin therapy for at least two weeks. The incidence is 1/300.000 to 400.000 and seen in both gender equally. There are two clinical subtypes of neonatal diabetes including temporary and permanent types. Transient type of neonatal diabetes constitutes 50-60% of all cases. Mutations in the KCNJ11, ABCC8, INS or HNF1B genes are responsible for 20-26% of transient type of neonatal diabetes, while methylation loss of differentiated methylation sites of chromosome 6q24 locus is responsible for the vast majority (about 70%). The onset of disease can be immediately after birth and clinical manifestations are polyuria, dehydration and poor weight gain in the first six weeks of life. In this paper, a transient neonatal diabetes case which developed feeding intolerance on the first days of life with detected hyperglycemia requiring insulin therapy; and detected maternal loss of methylation on chromosome 6q24 is presented because of the rarity of the disease.
Keywords: Newborn, neonatal diabetes mellitus, chromosome 6q24, maternal methylation loss
