[MODY type diabetes: an often-misunderstood entity].

Area of Science:

• Endocrinology
• Genetics
• Metabolic Disorders

Background:

• Maturity Onset Diabetes of the Young (MODY) is a monogenic diabetes form.
• Characterized by early onset (<25 years), preserved beta-cell function, and autosomal dominant inheritance.
• MODY accounts for 2-5% of diabetes cases and is frequently misdiagnosed.

Purpose of the Study:

• To review the three most common MODY subtypes.
• To highlight the diagnostic and therapeutic importance of genetic testing.
• To discuss potential associated organ damage in specific MODY forms.

Main Methods:

• Literature review focusing on genetic mutations causing MODY.
• Analysis of diagnostic criteria and genetic testing approaches.
• Discussion of treatment strategies based on MODY subtype.

Main Results:

• Three main MODY subtypes, caused by mutations in GCK, HNF1A, and HNF4A genes, account for ~80% of cases.
• Genetic testing enables accurate MODY diagnosis.
• Timely diagnosis facilitates appropriate, personalized treatment.

Conclusions:

• Genetic testing is crucial for identifying MODY diabetes and differentiating it from other diabetes types.
• Understanding specific MODY subtypes allows for targeted therapies and management of potential complications.
• Early diagnosis and tailored treatment improve patient outcomes in MODY.