Maturity-Onset Diabetes of the Young Associated With a Pathogenic ABCC8 Variant: Expanding the Phenotypic Spectrum
This case expands the phenotypic spectrum of <i>ABCC8</i>-related diabetes, demonstrating that the c.4613G>A (p.Arg1538Gln) variant can present as MODY without prior CHI. Genetic testing is essential for accurate diagnosis and treatment strategies in monogenic diabetes.
Authors
- Pilar Medina (ORCID: https://orcid.org/0000-0001-9637-5998)
- Eduardo Smelin Perdomo Domínguez (ORCID: https://orcid.org/0000-0003-0991-8179)
- Milca S. Velásquez-Hernandez
- Liany F. Acosta-Paguada
Institutions
- Universidad de San Pedro Sula (HN)
- Universidad Católica de Honduras Nuestra Señora Reina de la Paz (HN)
- Honduras Foundation for Agricultural Research (HN)
Publication Details
- Journal
- AACE Endocrinology and Diabetes
- Published
- 2025-05-16
- DOI
- https://doi.org/10.1016/j.aed.2025.04.001
- Citations
- 1
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 2.01