Transient neonatal diabetes mellitus
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A newborn with severe IUGR develops hyperglycemia in the first week of life requiring insulin. Diabetes resolves by 12 weeks but recurs in adolescence.
- Chromosome 6q24 abnormalities (paternal UPD6, duplication): ~70%
- KCNJ11, ABCC8 variants
- Onset first week of life
- IUGR
- Resolves by 3-18 months (usually)
- Risk of recurrence (especially puberty/pregnancy)
- Hyperglycemia requiring treatment in the first weeks of life, typically with IUGR; distinguish from permanent neonatal diabetes by later resolution
- Methylation/genetic testing of the 6q24 imprinted locus (paternal UPD6, paternal duplication, or maternal hypomethylation) accounts for most cases
- Test KCNJ11 and ABCC8 (K-ATP channel) variants, especially if diabetes persists or to guide therapy
- Insulin during the active hyperglycemic phase, titrated as endogenous control returns; manage IUGR/feeding
- For KCNJ11/ABCC8 (K-ATP channel) cases, sulfonylureas can replace insulin
- Long-term follow-up for recurrence of diabetes (commonly in adolescence or during pregnancy)
- Genetic counseling tailored to mechanism (UPD6, paternal duplication, K-ATP channel variants have distinct recurrence implications)