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Original article
Aetiopathology and genetic basis of neonatal diabetes
  1. J P H Shielda,
  2. R J Gardnerb,
  3. E J K Wadswortha,
  4. M L Whitefordc,
  5. R S Jamesb,
  6. D O Robinsonb,
  7. J D Bauma,
  8. I K Templed
  1. a*The British Paediatric Association Surveilliance Unit is now the Surveillance Unit of the Royal College of Paediatrics and Child HealthInstitute of Child Health, St Michael’s Hill, Bristol, BS2 8BJ, bWessex Regional Genetics Laboratory, Salisbury District Hospital, cDuncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, dWessex Clinical Genetics Service, The Princess Anne Hospital, Southampton
  1. Dr J P H Shield.

Abstract

A British Paediatric Association Surveillance Unit* study of neonatal diabetes determined a national incidence of 1 in 400 000 live births. Additional cases of transient neonatal diabetes were collected retrospectively. Most cases were of low birthweight at term: none had evidence of an autoimmune aetiopathogenesis. The median requirement for exogenous insulin treatment was three months.

 A significant number of cases developed type 2 diabetes in later life. Three of the 11 cases were found to have paternal uniparental isodisomy of chromosome 6. A further patient carried an unbalanced duplication of 6q 22-23, inherited from the father, which localised a potentially imprinted gene for diabetes to this region.

 The fact that low birthweight predisposes to type 2 diabetes in later life is well established, but a genetic defect that may relate both to intrauterine growth failure and the development of type 2 diabetes in later life has now been identified.

  • neonatal diabetes
  • uniparental isodisomy
  • chromosome 6
  • type 2 diabetes.

https://doi.org/10.1136/fn.76.1.F39

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