1. Differentiating Among Type 1, Type 2 Diabetes, and MODY: Raising Awareness About the Clinical Implementation of Genetic Testing in Latin America
- Author
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Lam-Chung César Ernesto, MD, Elizondo Ochoa Álvaro, MD, Segura Kato Yayoi, MSc, Silva-Serrano Juanita, MD, Tusié Luna María Teresa, MD, PhD, and Paloma Almeda-Valdes, MD, PhD
- Subjects
diabetes mellitus ,maturity onset ,maturity-onset diabetes of the young ,type 2 ,glucokinase ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Objective: To describe a case of maturity-onset diabetes of the young (MODY) to highlight the importance of a correct diabetes diagnosis. Methods: We describe a Mexican family misdiagnosed with T1D and T2D. Results: A 36-year-old woman with diabetes and adverse outcomes during 2 pregnancies had been diagnosed with T2D 10 years ago. Genetic testing was performed due to clinical and family history, which showed a pathogenic heterozygous variant c.544G>T (p.Val182Leu) in the GCK gene. This mutation was also confirmed in most of the family members who had been diagnosed with diabetes. Conclusion: This case highlights the need for a correct diabetes classification. Reassessment of diabetes etiology is justified, especially in individuals with unclear clinical presentation or when family history is suggestive.
- Published
- 2021
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