ACTA ENDOCRINOLOGICA (BUC)

Context. The relationship between life changes and glycemic control in children with type 1 diabetes during the pandemic period was examined. Objective. We aimed to investigate the effect of the pandemic period on 66 children (aged 5-18 years) with type 1 diabetes using scales evaluating family functionality, nutritional habits, adherence to treatment and depression status. Design. It is a cross-sectional clinical and laboratory study using certain scales for its descriptive features. Subjects and Methods. Demographic characteristics, anthropometric measurements, laboratory investigations were evaluated. Family functionality of the patients were evaluated with Smilkstein’s family APGAR scale, motivation and knowledge levels were evaluated with the 6-item Morisky medication adherence scale (MMAS-6), nutritional habits were evaluated with the Mediterranean diet quality index (KIDMED), and depression status was evaluated with the children depression inventory (CDI). Results. The mean HbA1c level increased significantly in the first year of the pandemic compared to the onset of the pandemic period (8.5% vs. 8.9%, p: 0.003). In the responses to these scales, children with diabetes have high family functionality (89.4%), high motivation (90.9%) and high knowledge level about adherence to treatment (97%). Furthermore, healthy eating habits (high KIDMED index scores 92.4%), and low degree of depression score (95.5%) have been observed. We detected a statistically significant positive correlation between HbA1c and CDI scores (r: 0.27; p: 0.02), and a negative correlation between HbA1c and MMAS-6 motivation score (r: -0.30; p: 0.01). Conclusions. In this study, the effect of motivation and mood changes on glycemic control was more clearly demonstrated.

Background. Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while lossof- function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family. Patients and methods. The proband, an 11-yearold male, was referred for asymptomatic mild hyperglycemia (fasting glucose:121 mg/dL) and HbA1c of 6.1%. Segregation analysis of the family revealed multiplex members with asymptomatic fasting hyperglycaemia or non-insulindependent diabetes and 33-year-old maternal uncle of the proband case had a history of distal pancreatectomy due to the diagnosis of insulinoma. His preoperative investigations were revealed fasting glucose of 31 mg/dL, insulin: 7μU/ mL, C-peptide: 2.6 mg/dL, and a low HbA1c(4.0%) which was suggestive for recurring hypoglycaemia episodes. Postpancreatectomy he developed mild fasting hyperglycemia (115-136 mg/dL). Results. Genetic analysis revealed heterozygous p.Ser453Leu(c.1358C> T) mutation in the GCK gene in the proband. In segregation analysis, the identical heterozygous p.Ser453Leu(c.1358C> T) GCK gene mutation was detected in all of the other affected family members for whom a DNA analysis was applicable. The maternal uncle was first diagnosed with insulinoma and underwent a pancreatectomy. He also had an identical mutation in a heterozygous state. Conclusion. We, to the best of our knowledge, firstly identified these two entirely distinct phenotypes of glucose metabolism, GCK-MODY and GCK-HI, due to an identical heterozygous p.Ser453Leu (c.1358C> T) mutation in the GCK. Further studies required to elucidate this new phenomenon and understanding the genotype-phenotype relationship of GCK gene mutations.