High prevalence of maturity‐onset diabetes of the young in the Czech Republic: A 25‐year nationwide registry‐based study
Authors' conclusion
This study provides one of the highest national prevalence rates of MODY to date. Nevertheless, approximately half of the expected cases remain undetected. The negative group included several different subtypes of glucose tolerance disorders, which should guide future research into the pathogenesis of different types of diabetes.
Study context
- Population
- Probands with suspected Maturity-Onset Diabetes of the Young (MODY) referred for genetic testing and registered in the Czech National Registry for Monogenic Diabetes, 1999–2023
- Participants
- 1,879 probands
- Outcome
- Minimal prevalence of MODY
Methodological detailsnationwide, 25-year registry
- Nationwide
- 25-year registry
Main finding
As reported in the abstract
Average prevalence of MODY
136 per million inhabitants
Peak prevalence, northeast region
240 per million
Cases remaining undiagnosed (highest recorded minimum prevalence applied to total population)
≈44%
Observational data: associations, not effects.
Further findings
Confirmed MODY diagnosis
- Probands with confirmed diagnosis
- 728 (39%)
- Individuals diagnosed in total
- 1473
- GCK, HNF1A and HNF4A variants, share of all diagnoses
- 93%
Cluster analysis of probands with no identified monogenic cause
- Overlapping, clinically defined subgroups identified
- 5
Original publication
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