This protocol covers monogenic diabetes presenting as transient neonatal diabetes mellitus (TNDM) caused by imprinting anomalies at the 6q24 locus — involving the PLAGL1 and HYMAI genes — which represent the single most common genetic cause of neonatal diabetes and invariably produce the transient form.
Affected neonates present with severe intrauterine growth retardation (IUGR) and nonketotic hyperglycemia in the first week of life. Approximately one-third also show macroglossia; umbilical hernia is a less frequent associated finding.
Management begins with insulin therapy at presentation. Despite the severity of the initial picture, the insulin dose is typically tapered promptly — and because many infants retain a degree of endogenous beta-cell function, the full treatment algorithm, including the conditions under which alternative agents may be appropriate, is set out in the structured protocol.
The primary goal is remission of diabetes, typically achieved by a median age of 12–14 weeks, with a remission rate approaching 100%.
DOI: 10.1111/pedi.13426