Treatment implications of a delayed diagnosis of maturity-onset diabetes of the young

Aleena S Ali; Fran Brown; Elif I Ekinci

doi:10.1111/imj.15157

Treatment implications of a delayed diagnosis of maturity-onset diabetes of the young

Intern Med J. 2021 Jan;51(1):116-120. doi: 10.1111/imj.15157.

Authors

Aleena S Ali¹, Fran Brown², Elif I Ekinci^{3

4}

Affiliations

¹ Department of General Medicine, Austin Health, Melbourne, Victoria, Australia.
² Melbourne Diabetes Education and Support, Melbourne, Victoria, Australia.
³ Department of Endocrinology, Austin Health, Melbourne, Victoria, Australia.
⁴ Department of Medicine, Austin Health, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia.

PMID: 33572031
DOI: 10.1111/imj.15157

Abstract

Maturity-onset diabetes of the young (MODY) is a rare form of monogeneic diabetes that classically presents as non-insulin requiring diabetes with evidence of autosomal dominant inheritance in individuals who are typically young and lean. However, these criteria do not capture all cases and can also overlap with other types of diabetes. The hepatocyte nuclear factor-1 alpha (HNF1A) mutation is a common cause of MODY and is highly sensitive to sulphonylureas, which should be first-line therapy. Our case represents the diagnostic challenges of HNF1A MODY and the implications of a delayed diagnosis, which can lead to reduced success of sulphonylurea treatment.

Keywords: hepatocyte nuclear factor 1-alpha; maturity-onset diabetes of the young; sulphonylurea.

MeSH terms

Delayed Diagnosis*
Diabetes Mellitus, Type 2* / diagnosis
Diabetes Mellitus, Type 2* / drug therapy
Diabetes Mellitus, Type 2* / genetics
Hepatocyte Nuclear Factor 4 / genetics
Humans
Mutation

Substances

Hepatocyte Nuclear Factor 4

Supplementary concepts

Mason-Type Diabetes