title: Maturity-onset diabetes of the young (MODY): how many cases are we missing?
abstract: OBJECTIVE
  Maturity-onset diabetes of the young is frequently misdiagnosed as type 1 or type 2 diabetes. A correct diagnosis of MODY is important for determining treatment, but can only be confirmed by molecular genetic testing. We aimed to compare the regional distribution of confirmed MODY cases in the UK and to estimate the minimum prevalence.
  
  
  METHODS
  UK referrals for genetic testing in 2,072 probands and 1,280 relatives between 1996 and 2009 were examined by region, country and test result. Referral rate and prevalence were calculated using UK Census 2001 figures.
  
  
  RESULTS
  MODY was confirmed in 1,177 (35%) patients, with HNF1A (52%) and GCK mutations (32%) being most frequent in probands confirmed with MODY. There was considerable regional variation in proband referral rates (from <20 per million in Wales and Northern Ireland to >50 per million for South West England and Scotland) and patients diagnosed with MODY (5.3 per million in Northern Ireland, 48.9 per million in South West England). Referral rates and confirmed cases were highly correlated (r = 0.96, p < 0.0001). The minimum prevalence of MODY was estimated to be 108 cases per million.
  
  
  CONCLUSIONS
  Assuming this minimal prevalence throughout the UK then >80% of MODY is not diagnosed by molecular testing. The marked regional variation in the prevalence of confirmed MODY directly results from differences in referral rates. This could reflect variation in awareness of MODY or unequal access to genetic testing. Increased referral for diagnostic testing is required if the majority of MODY patients are to have the genetic diagnosis necessary for optimal treatment.
authors.affiliation: Peninsula Medical School, University of Exeter, Exeter, UK.
authors.forename: B M
authors.initials: BM
authors.lastname: Shields
authors.forename: S
authors.initials: S
authors.lastname: Hicks
authors.forename: M H
authors.initials: MH
authors.lastname: Shepherd
authors.forename: K
authors.initials: K
authors.lastname: Colclough
authors.forename: A T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: S
authors.initials: S
authors.lastname: Ellard
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D004739:England / Q000453:epidemiology; D005190:Family; D005820:Genetic Testing / Q000706:statistics & numerical data; D006297:Health Services Accessibility / Q000592:standards / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D008403:Mass Screening / Q000592:standards* / Q000706:statistics & numerical data; D009660:Northern Ireland / Q000453:epidemiology; D015995:Prevalence; D012017:Referral and Consultation / Q000706:statistics & numerical data; D012606:Scotland / Q000453:epidemiology; D014852:Wales / Q000453:epidemiology; D055815:Young Adult