Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features

Curr Diab Rep. 2018 Jun 13;18(7):46. doi: 10.1007/s11892-018-1016-2.


Purpose of review: The goal of this review is to provide updates on congenital (neonatal) diabetes from 2011 to present, with an emphasis on publications from 2015 to present.

Recent findings: There has been continued worldwide progress in uncovering the genetic causes of diabetes presenting within the first year of life, including the recognition of nine new causes since 2011. Management has continued to be refined based on underlying molecular cause, and longer-term experience has provided better understanding of the effectiveness, safety, and sustainability of treatment. Associated conditions have been further clarified, such as neurodevelopmental delays and pancreatic insufficiency, including a better appreciation for how these "secondary" conditions impact quality of life for patients and their families. While continued research is essential to understand all forms of congenital diabetes, these cases remain a compelling example of personalized genetic medicine.

Keywords: Congenital diabetes; Monogenic diabetes; NDM; Neonatal diabetes; PNDM; TNDM.

Publication types

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

MeSH terms

  • Diabetes Mellitus / congenital*
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / economics
  • Diabetes Mellitus / genetics*
  • Genetic Testing / methods*
  • Genomic Imprinting
  • Humans
  • Insulin / genetics
  • Mutation / genetics
  • Quality of Life


  • Insulin