Clinical Characteristics and Remission Monitoring of 6q24‐Related Transient Neonatal Diabetes
Authors' conclusion
Clinical characteristics were not different across underlying genetic mechanism groups, suggesting that genetic testing is required to definitively determine the mechanism and diagnosis of 6q24-TNDM.
Study context
- Population
- Individuals with genetically confirmed 6q24-related transient neonatal diabetes mellitus (6q24-TNDM); 58% male1 of unknown etiology
- Participants
- 33 individuals
- Exposure
- Genetic etiologies of 6q24-TNDM: Paternal uniparental disomy (pUPD6) vs paternal duplication vs maternal hypomethylation
- pUPD6n = 17
- Paternal duplicationn = 7
- Maternal hypomethylationn = 8
- Outcome
- Clinical characteristics
Methodological detailsUniversity of Chicago Monogenic Diabetes Registry, survey responses and medical records
- University of Chicago Monogenic Diabetes Registry
- Survey responses and medical records
Main finding
As reported in the abstract
- Median age at initial diabetes presentation (n = 33)
- 2 days
- Median age at remission (n = 28)
- 3 months
- Median age at relapse (range 12-31 years, n = 9)
- 14 years
- Born small for gestational age
- 71%
- Born before 37 weeks gestation
- 32%
- Umbilical hernia
- 22%, n = 6/27
- Macroglossia
- 56%, n = 15/27
- Speech pathologies
- 36%, n = 10/28
Observational data: associations, not effects.
Original publication
Clinical Characteristics and Remission Monitoring of 6q24‐Related Transient Neonatal Diabetes. Pediatr Diabetes. Published 25 November 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →