Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.

Context: Neonatal diabetes is a rare disorder with an incidence of 1 in 215,000-500,000 live births with 50% of them having permanent neonatal diabetes mellitus.

Case Report: We present a case of permanent neonatal diabetes mellitus due to a C96Y (c.287G>A; p.