Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6

J Pediatr Endocrinol Metab. Jul-Aug 2001;14(7):893-5. doi: 10.1515/jpem.2001.14.7.893.


We report a male infant with transient neonatal diabetes mellitus (TNDM; MIM 601410), macroglossia, hypertelorism, umbilical hernia, inguinoscrotal hernia and onychomycosis. Diabetes mellitus was diagnosed 10 days after birth and resolved after 6.5 months of treatment. Genetic investigation indicated the presence of paternal uniparental disomy of chromosome 6 (UPD 6). The finding of paternal UPD 6 allows prediction of a transient, rather than permanent NDM, and no increased recurrence risk of TNDM in subsequent pregnancies. Therefore, finding of NDM should be a strong indicator for genetic testing.

Publication types

  • Case Reports

MeSH terms

  • Blood Glucose / metabolism
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 6 / genetics*
  • Diabetes Mellitus / congenital
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Humans
  • Hypoglycemic Agents / therapeutic use
  • Infant, Newborn
  • Insulin / therapeutic use
  • Male


  • Blood Glucose
  • Hypoglycemic Agents
  • Insulin