Introduction and Objective: Syndromic diabetes refers to the co-occurrence of diabetes with abnormalities of organ systems beyond the endocrine pancreas. RADIANT was established to study atypical forms of diabetes including syndromic diabetes. We aimed to characterize individuals with putative syndromic forms of diabetes in RADIANT.Methods: We defined syndromic diabetes based on 1 major and 1 minor criterion, or 3 minor criteria without any exclusion criteria in individuals who were diagnosed with diabetes before 35 years of age. Major criteria include dysmorphic features, intellectual disability, and neurodevelopmental disorders. Minor criteria include symptoms related to another organ system. To be included as a criterion, the symptoms should not be known complications of diabetes mellitus, should be present before the onset of diabetes or within 10 years of diabetes diagnosis, and be rated as moderate to severe. Exclusion criteria included individuals with positive islet autoantibodies, secondary diabetes, symptoms resembling mitochondrial diabetes, severe insulin resistance, or lipodystrophy. Participants underwent fasting labs and a 2-hour oral glucose tolerance test.Results: As of November 2024, 31 out of 272 (11.4%) of participants were deemed to have syndromic diabetes based on the above criteria. The mean age of diabetes diagnosis was 16.8 ± 8.3 years. Most individuals had intact C-peptide (mean fasting C-peptide 2.4 ± 1.3 ng/mL; C-peptide index 2.2 ± 1.3). They had overall excellent glycemic control (mean HbA1c 7.0 ± 0.7%). On average, participants had 4.6 ± 1.5 systems affected. The most common systems affected included endocrine, gastrointestinal, cardiovascular, genitourinary, and neurological. Thus far, a unifying genetic diagnosis has not been identified in these individuals.Conclusion: These cases highlight the spectrum of syndromic forms of diabetes found within RADIANT and represent an opportunity to define novel syndromes related to diabetes.
S.I. Stone: None. F. Urano: Other Relationship; Novus Biologicals. Advisory Panel; Opris Biotechnologies, Emerald Biotherapeutics. Board Member; CURE4WOLFRAM. Y. Yang: None. C. Kirk: None. M. Tosur: None.
National Institutes of Health (U54DK118612)
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