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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;
Insights
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.
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.
Background:
Hyperglycemia in premature infants is usually thought to reflect inadequate pancreatic development rather than monogenic neonatal diabetes. No studies, to our knowledge, have investigated the prevalence of monogenic forms of diabetes in preterm infants.
Methods:
We studied 750 patients with diabetes diagnosed before 6 months of age. We compared the genetic etiology and clinical characteristics of 146 preterm patients born <37 weeks and compared them with 604 born ≥37 weeks.
Results:
A genetic etiology was found in 97/146 (66%) preterm infants compared with 501/604 (83%) born ≥37weeks, P < .0001. Chromosome 6q24 imprinting abnormalities (27% vs 12%, P = .0001) and GATA6 mutations (9% vs 2%, P = .003) occurred more commonly in preterm than term infants while mutations in KCNJ11 were less common (21 vs 34%, P = .008). Preterm patients with an identified mutation were diagnosed later than those without an identified mutation (median [interquartile range] 35 [34 to 36] weeks vs 31 [28 to 36] weeks, P < .0001). No difference was seen in other clinical characteristics of preterm patients with and without an identified mutation including age of presentation, birth weight, and time to referral.
Conclusions:
Patients with neonatal diabetes due to a monogenic etiology can be born preterm, especially those with 6q24 abnormalities or GATA6 mutations. A genetic etiology is more likely in patients with less severe prematurity (>32 weeks). Prematurity should not prevent referral for genetic testing as 37% have a potassium channel mutation and as a result can get improved control by replacing insulin with sulphonylurea therapy.
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