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Prematurity and Genetic Testing for Neonatal Diabetes.

Rachel E J Besser1, Sarah E Flanagan2, Deborah G J Mackay3

  • 1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom; Institute of Child Health, University College London, London, United Kingdom;

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|August 20, 2016
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This summary is machine-generated.

Monogenic neonatal diabetes occurs in preterm infants, particularly those with 6q24 abnormalities or GATA6 mutations. Genetic testing is crucial, as some preterm infants with mutations benefit from sulfonylurea therapy instead of insulin.

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Area of Science:

  • Endocrinology
  • Genetics
  • Neonatal Medicine

Background:

  • Neonatal diabetes is typically attributed to pancreatic insufficiency, not genetic causes, especially in preterm infants.
  • Monogenic diabetes forms in preterm infants remain understudied.
  • This research investigates the prevalence and characteristics of monogenic diabetes in preterm neonates.

Purpose of the Study:

  • To determine the prevalence of monogenic diabetes in preterm infants.
  • To compare the genetic etiology and clinical features of monogenic diabetes in preterm versus term infants.
  • To highlight the importance of genetic testing for preterm infants with neonatal diabetes.

Main Methods:

  • Analyzed 750 patients diagnosed with diabetes before six months of age.
  • Compared genetic etiology and clinical characteristics of 146 preterm infants (<37 weeks) with 604 term infants (≥37 weeks).

Main Results:

  • A genetic cause was identified in 66% of preterm infants versus 83% of term infants.
  • Chromosome 6q24 imprinting abnormalities and GATA6 mutations were more common in preterm infants.
  • KCNJ11 mutations were less frequent in preterm infants, who were diagnosed later if a mutation was present.

Conclusions:

  • Monogenic diabetes can occur in preterm infants, notably with 6q24 abnormalities or GATA6 mutations.
  • Genetic etiology is more probable in preterm infants with less severe prematurity (>32 weeks).
  • Prematurity should not deter genetic testing, as KCNJ11 mutations (37%) may respond to sulfonylurea therapy, improving glycemic control.