Hormonal
Monogenic diabetes, representing 1-4% of diabetes cases in infants and young adults, is frequently misdiagnosed as Type 1 or Type 2 diabetes, leading to inappropriate therapeutic management and worsened prognosis.
If a child or young adult is diagnosed with diabetes, ask if genetic testing for monogenic forms has been considered. Misdiagnosis as T1 or T2 can lead to incorrect treatment and worse outcomes, as monogenic diabetes often requires specific therapies different from standard insulin or oral agents.
Monogenic diabetes, caused by single gene mutations, represents between 1% and 4% of all cases of diabetes in infants and young adults. It is still underdiagnosed, and patients are often misidentified as having type 1 diabetes (T1D) or type 2 diabetes (T2D), hindering appropriate therapeutic management and worsening their prognosis.
Why this rating
The paper is a roadmap/review identifying gaps; it cites existing consensus reports and registries but does not present new primary clinical trial data.
Source
EndoCompass project: research roadmap for diabetes, obesity, and metabolism
Chantal Mathieu et al. · European Journal of Endocrinology · 2025
DOI 10.1093/ejendo/lvaf065
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