How to Screen Appropriately for Monogenic Diabetes

Research output: Chapter in Book/Report/Conference proceedingChapter


The causation of diabetes in a given individual may be heterogeneous but is broadly categorized into insulin-mediated diabetes (type 1 diabetes) and non-insulin mediated diabetes (type 2 diabetes). The falling cost of genetic characterization using a gene panel approach decreases the need to define the genetic etiology prior to testing. The factors that discriminated monogenic diabetes from type 1 diabetes were an older age at diagnosis, better glycemic control, female sex and a parent with diabetes. HNF1A is a transcription factor necessary for pancreatic islet development and functioning. The clinical features of affected patients overlap significantly with those affected by HNF1A mutations and are characterized by progressive β-cell dysfunction which is responsive to sulfonylurea treatment. The commonest causes of monogenic diabetes encountered in clinical practice are those caused by mutations in GCK, HNF1A, and HNF4A.

Original languageEnglish (US)
Title of host publicationClinical Dilemmas in Diabetes
Subtitle of host publicationSecond Edition
Number of pages4
ISBN (Electronic)9781119603207
ISBN (Print)9781119603160
StatePublished - Jan 1 2021

ASJC Scopus subject areas

  • General Medicine


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