Clinical Review

Diagnosis and management of maturity onset diabetes of the young (MODY)

BMJ 2011; 343 doi: http://dx.doi.org/10.1136/bmj.d6044 (Published 19 October 2011) Cite this as: BMJ 2011;343:d6044
  1. Gaya Thanabalasingham, clinical research fellow12,
  2. Katharine R Owen, consultant physician12
  1. 1Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
  2. 2Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, UK
  1. Correspondence to: K R Owen katharine.owen{at}drl.ox.ac.uk
  • Accepted 12 August 2011

Summary points

  • One to two per cent of cases of diabetes have a monogenic cause but delayed diagnosis and misdiagnosis as type 1 and type 2 diabetes are common

  • Mutations in the glucokinase (GCK), hepatocyte nuclear factor 1α (HNF1A), and hepatocyte nuclear factor 4α (HNF4A) genes are the most common causes of maturity onset diabetes of the young (MODY)

  • Diagnostic and predictive genetic tests for the common causes of MODY are available

  • Consider a diagnosis of MODY in patients with diabetes whose features are atypical of their diagnostic label

  • A diagnosis of MODY has important clinical implications for patients and their families

  • Insulin and oral hypoglycaemic agents can usually be stopped in patients with GCK-MODY, and sulfonylureas are the optimal treatment in HNF1A/HNF4A-MODY

Maturity onset diabetes of the young (MODY) comprises a heterogeneous group of monogenic disorders characterised by β cell dysfunction. It is estimated to be the underlying cause of diabetes in 1-2% of patients diagnosed with diabetes, but prevalence estimates will not be accurate until large population screening studies are performed.1 It is important to distinguish MODY from type 1 and type 2 diabetes because optimal treatments are different. Furthermore, first degree relatives have a 50% probability of inheriting the same mutation, which confers a greater than 95% lifetime risk of developing diabetes.2 Distinguishing people who have rare forms of diabetes such as MODY from those with type 1 or type 2 diabetes is a diagnostic challenge because clinical features are similar. In this review we discuss when the general physician might suspect MODY and how to identify which patients with diabetes should be offered genetic testing. We focus on the recognition of the common forms of MODY in people diagnosed with diabetes in the age range 10-45 years, drawing mainly on evidence from small trials and cross …

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