Prematurity and Genetic Testing for Neonatal Diabetes

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.