Endocrine Abstracts

JOINT2245

Adult-onset diabetes mellitus (MODY) in adolescents represents a distinct category of autosomal dominant inherited monogenic diabetes disorders. It typically exhibits a subclinical onset and is characterized by clinical manifestations such as family-based, mild, and non-progressive fasting glucose hyperglycemia. Unfortunately, due to its relatively subtle and atypical features, it is often prone to misdiagnosis and excessive treatment. This report meticulously delineates a freshly diagnosed case of MODY that was triggered by a variant in the glucokinase (GCK) gene, specifically identified as p. A379L. The proband manifested the disease during adolescence, presenting with mild impairment in fasting glucose levels, negative insulin antibodies, and a moderately compromised pancreatic function. Intriguingly, both the proband and his father were found to carry a heterozygous variant in the ninth exon of the GCK gene at the genomic location of Chr7:44145614. Both of them maintained normal blood sugar levels through diet and health management. The GCK gene variant p. A379L was identified as the main pathogenic gene in this MODY2 family, which is the first report of its kind both at home and abroad.