Type 1 diabetes can present in infants as young as 6 months: Study

UK: Type 1 diabetes (T1D) can present before the age of 6 months, finds a recent study in the journal Diabetologia. The findings highlight the need for comprehensive genetic testing for neonatal diabetes genes for all patients diagnosed at less than 6 months of age.

"We provide strong evidence that type 1 diabetes can present before the age of 6 months based on individuals with this extremely early-onset diabetes subtype having the classic features of childhood T1D: high genetic risk, autoimmunity and rapid beta cell loss.

Diabetes diagnosed at <6 months of age is usually monogenic. However, 10–15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. Richard A. Oram, University of Exeter Medical School, Exeter, UK, and colleagues characterized infants diagnosed at <6 months of age without a pathogenic variant to assess whether polygenic type 1 diabetes could arise at early ages.

The researchers studied 166 infants diagnosed with type 1 diabetes at <6 months of age in whom pathnts pathogenic variants in all 26 known genes had been excluded. They were compared with infants with monogenic neonatal diabetes (n = 164) or children with type 1 diabetes diagnosed at 6–24 months of age (n = 152). Type 1 diabetes genetic risk score (T1D-GRS), islet autoantibodies, C-peptide and clinical features were then assessed. 

"The early-onset association with reduced birth weight raises the possibility that for some individuals there was reduced insulin secretion in utero. Comprehensive genetic testing for all neonatal diabetes genes remains essential for all individuals diagnosed with diabetes at <6 months of age," concluded the authors. 

The study, "Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells," is published in the journal Diabetologia.

DOI: https://link.springer.com/article/10.1007/s00125-020-05276-4