Genetic variants and characterization of MODY in a single, large pediatric referral center
Our data reveals that the presence of positive islet cell antibodies may not preclude a diagnosis of MODY if there is a strong clinical suspicion. High MPC scores correlated with diagnoses of MODY except in patients with insulin dependence. Diagnosis of MODY led to targeted treatment changes.
Authors
- Lily Deng
- Mansa Krishnamurthy (ORCID: https://orcid.org/0000-0001-8178-0886)
- AMY SANGHAVI SHAH (ORCID: https://orcid.org/0000-0001-7297-139X)
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- University of Cincinnati Medical Center (US)
Publication Details
- Journal
- Journal of Clinical & Translational Endocrinology
- Published
- 2025-05-10
- DOI
- https://doi.org/10.1016/j.jcte.2025.100398
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Cincinnati Children's Hospital Medical Center