Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center

Keyphrases

• Latin American 100%
• Type 2 Diabetes Mellitus (T2DM) 100%
• Maturity-onset Diabetes of the Young 100%
• Gestational Diabetes 100%
• Tertiary Care Centers 100%
• Type 1 Diabetes Mellitus (T1DM) 41%
• Type I Diabetes 41%
• Gestational Diabetes Mellitus 41%
• Whole Exome Sequencing 25%
• Missense Variant 25%
• Pathogenic Variants 25%
• Diabetes 16%
• Monogenic 16%
• Misclassified 16%
• Diabetes Diagnosis 16%
• Electronic Health Records 8%
• Genetic Characterization 8%
• Reclassification 8%
• Clinical Characteristics 8%
• Therapeutic Approaches 8%
• Analytical Characteristics 8%
• Diagnostic Accuracy 8%
• Clinical Presentation 8%
• Latin American Populations 8%
• Clinical Data 8%
• Appropriate Management 8%
• History Data 8%
• Young Patients 8%
• Clinical Genetics 8%
• MODY10 8%
• Genetic Characteristics 8%
• MODY2 8%
• INS Gene 8%
• MODY3 8%
• Laboratory Data 8%
• Dominant Pattern 8%
• Medical Laboratory 8%
• Islet Autoimmunity 8%
• HNF1A Gene 8%
• Autosomal Dominant 8%
• Diabetic Ketoacidosis 8%
• Phenotypic Patterns 8%
• Youngest Case 8%
• ABCC8 Gene 8%
• Age at Maturity 8%
• GCK Gene 8%
• NeuroD1 8%
• MODY12 8%
• Tailored Therapy 8%
• MODY6 8%
• Medical History 8%
• Frameshift Variant 8%
• Type 1 or Type 2 Diabetes 8%
• Syndromic 8%
• Non-syndromic 8%

Medicine and Dentistry

• Maturity Onset Diabetes of the Young 100%
• Diagnostic Error 100%
• Gestational Diabetes 100%
• Insulin Dependent Diabetes Mellitus 25%
• Diabetes 20%
• Exome Sequencing 15%
• Diagnostic Accuracy 5%
• Electronic Patient Record 5%
• Tertiary Care 5%
• Autoimmunity 5%
• Genetic Trait 5%
• Genetics 5%
• Autosomal Dominant Inheritance 5%
• Medical History 5%
• Diabetic Ketoacidosis 5%

Biochemistry, Genetics and Molecular Biology

• Maturity Onset Diabetes of the Young 100%
• Missense 15%
• Exome Sequencing 15%
• Genetics 5%
• Genetic Trait 5%
• Autoimmunity 5%
• Electronic Medical Record 5%
• HNF1A 5%
• NEUROD1 5%
• ABCC8 5%
• Autosomal Dominant Inheritance 5%