Endocrine Abstracts

Diabetes mellitus (DM) type MODY (Maturity Onset Diabetes of the Young) accounts 10% of cases of diabetes with onset before 35 years. The aim was to determine characteristics of the course of the main types of MODY.

Materials and Methods: 45 patients aged 18 to 35 years diagnosed with MODY molecular genetic testing (next-generation sequencing technology and direct automated Sanger sequencing) were included: 31 had mutations in the GCK gene, 14 - in the HNF1A gene, they were under dynamic observation for three years. All patients had at baseline and after three years: clinical examination, biochemical blood test, determination of HbA1c, C-peptide, thyroid status, microalbuminuria. Statistical processing of the results was done using the SPSS 20 program.

Results: The median age of patients with GCK-MODY was 21.5 [18.3; 34.6] years, HNF1A-MODY – 24.4 [19.8; 34.8] years (P=0.108). The majority of patients (87.1% and 96.8%) (P=0.562) with GCK-MODY had no symptoms of hyperglycemia at baseline and after three years. Hypercholesterolemia (25.8%) and allergic reactions (22.6%) prevailed among comorbidities. Patients with GCK-MODY had normal level of median C-peptide - 0.9 [0.6; 1.1] ng / ml at baseline; 0.8 [0.6; 1.9] ng/ml at 3 years (P=0.864), HbA1c targets were achieved (median 6.3 [6.0; 6.9]%; 6.5 [6.1; 7.0]% - after three years (P=0.130)). 48.4% achieve normoglycemia with a diet. 57.1% with HNF1A-MODY had symptoms of hyperglycemia at baseline and 14.2% (P=0.062) after three years. Hypercholesterolemia (64.3% at baseline; 46.2% after three years) (P=0.180) and arterial hypertension (28.6% at baseline and after three years) (P=1.000) prevailed among comorbidities. Median of C-peptide - 0.8 [0.6; 1.0] ng / ml at baseline; after three years - 0.6 [0.5; 1.0] ng/ml (P=0.840)) was normal; HbA1c levels increased slightly (7.0 [6.6; 7.6]% and 7.2 [6.7; 7.5]% (P=0.102)). Most patients achieve normoglycemia with oral antihyperglycemic therapy (42.9% at baseline, 50.0% at three years) (P=0.668)).

Conclusions 1. Majority patients with GCK-MODY had an asymptomatic course of the disease with moderate, non-progressive fasting hyperglycemia. 2. Majority patients with HNF1A-MODY had stable indicators of carbohydrate metabolism remained during dynamic monitoring but they had poorly metabolic control in comparison with GCK-MODY.

Acknowledgements: Abstract was written of the grant of the President of the Russia for state support of young Russian scientists - doctors of sciences MD-3017.2022.3.