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This episode of Endocrine Deep Dives explores HNF4A MODY, also known as MODY 1, a rare form of monogenic diabetes caused by mutations in the hepatocyte nuclear factor 4 alpha gene. We break down its distinct clinical phenotype, including macrosomia and neonatal hypoglycemia at birth, followed by progressive beta cell dysfunction later in life. We also discuss diagnostic screening criteria and why these patients show exquisite sensitivity to low dose sulfonylureas.
