Neonatal diabetes mellitus (NDM) is a rare form of diabetes that is likely to have a monogenic cause, particularly when diagnosed before 6 months of age. Clinical manifestations at the time of diagnosis include intrauterine growth retardation (IUGR), hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Approximately half of the NDM cases are transient (TNDM) but can ultimately relapse. In contrast, permanent NDM (PNDM) cases need continual treatment from diagnosis.
The most common cause of transient neonatal diabetes is overexpression of imprinted genes PLAGL1 and HYMAI at 6q24, due to either paternal uniparental disomy of chromosome 6 (UPD6), duplication of 6q24 on the paternally inherited allele, or hypomethylation of the maternally inherited allele. 6q24 Methylation-Specific MLPA can detect copy number variations and methylation abnormalities in the 6q24 region.
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