Monogenic diabetes: the impact of making the right diagnosis

Curr Opin Pediatr. 2018 Aug;30(4):558-567. doi: 10.1097/MOP.0000000000000643.


Purpose of review: Monogenic forms of diabetes have received increased attention and genetic testing is more widely available; however, many patients are still misdiagnosed as having type 1 (T1D) or type 2 diabetes. This review will address updates to monogenic diabetes prevalence, identification, treatment, and genetic testing.

Recent findings: The creation of a T1D genetic risk score and the use of noninvasive urinary C-peptide creatinine ratios have provided new tools to aid in the discrimination of possible monogenic diabetes from likely T1D. Early, high-dose sulfonylurea treatment in infants with a KCNJ11 or ABCC8 mutation continues to be well tolerated and effective. As the field moves towards more comprehensive genetic testing methods, there is an increased opportunity to identify novel genetic causes. Genetic testing results continue to allow for personalized treatment but should provide patient information at an appropriate health literacy level.

Summary: Although there have been clinical and genetic advances in monogenic diabetes, patients are still misdiagnosed. Improved insurance coverage of genetic testing is needed. The majority of data on monogenic diabetes has been collected from Caucasian populations, therefore, research studies should endeavor to include broader ethnic and racial diversity to provide comprehensive information for all populations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Age of Onset
  • Diabetes Mellitus / diagnosis*
  • Diabetes Mellitus / epidemiology
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / therapy
  • Diagnosis, Differential
  • Diagnostic Errors
  • Europe / epidemiology
  • Genetic Markers
  • Genetic Testing*
  • Humans
  • Prevalence
  • United States / epidemiology


  • Genetic Markers