ESPE Abstracts

Background: Patients with type 1 diabetes (T1D) are at higher risk for developing coexisting autoimmune diseases.Objective and hypotheses: To evaluate thyroid and celiac disease prevalence in children with T1D in Lithuanian paediatric population.Method: 777 patients (49.7% males) <18yrs with T1D, covering all T1D pediatric Lithuanian population, were examined. Serum free thyroxine (FT4), thyrotropin (TSH), antithyroid peroxidas...

Background: Mixed meal tolerance test (MMTT) is a gold standard for evaluating β-cell function. There is limited data on MMTT and β-cell function in MODY patients.Objective: The aim was to analyze plasma C-peptide (CP) levels during MMTT in MODY patients as a biomarker of β-cell function.Methods: The cohort consisted of 39 patients with MODY genes mutations:...

Background: Cardiovascular risk and obesity are rising problems among individuals with type 1 diabetes (T1D). Interventions targeted at decreasing cardiovascular risk in patients with diabetes may be most effective during adolescence and young adulthood, before atherosclerotic lesions become advanced or cardiac changes become irreversible.Objective and hypotheses: The aim of this study was to evaluate the prevalence of cardiovascular risk factors and obe...

Background: Age and gender are important factors in adjustment and psychological well-being in patients with chronic physical illness.Objective and hypotheses: To determine whether diabetes distress varies by age and/or gender in type 1 diabetic (T1D) patients.Method: Diabetes distress was compared in 255 adolescents and 283 young adults with T1D using Problem Areas in Diabetes Scale.Results: High diabetes di...

Background: Monogenic diabetes is a heterogeneous group of metabolic disorders resulting from defects in single genes. Over 90% of the subjects remain undiagnosed, mainly because of lack of access to genetic testing.Objective and hypotheses: The aim of our study was to do a comprehensive genetic analysis of the whole pediatric and young adult autoimmune antibody negative diabetes population of Lithuania.Method: 860 children (age 0&...

The aim of this study was to perform familial co-segregation analysis and functional trial in vivo during mixed meal tolerance test (MMTT) of novel variants in diabetes candidate genes.Methods: This study is a continuation of collaborative research project “Genetic diabetes in Lithuania” with the cohort of 1209 young diabetes patients. Prior screening for GADA, IA-2, IAA, ZnT8A confirmed type 1 diabetes (T1D) diagnos...

Background: Anti-Mullerian hormone (AMH) concentration is now well studied for prepubertal boys (Plotton, 2009, 2012) or women in reproductive medicine, but there is few data about reference value in newborns. This dosage could be helpful for the management of disorders of sex development.Objective: The objective was to determine reference values of AMH on umbilical cord blood and to compare the values to DSD new born diagnosed during the evaluation....

Recently, knowledge about the molecular genetic of male infertility has increased. However, in many cases, the etiology of infertility remains unknown. The Cancer/testis antigen: Fetal and Adult Testis Expressed (FATE-1), mainly expressed in human testis has been described two decades ago for his potential role in male infertility. FATE-1 is located on the X chromosome, contains a putative SF1 binding site and is co-expressed with SRY in human fetal testis. To date, only few d...

Shwachman-Diamond syndrome (SDS) is a rare congenital disease, which is caused by SBDS gene mutations. The main characteristics of SDS are pancreatic exocrine deficiency, hematological dysfunction, and skeletal growth failure. Emerging data from case reports and patient registries suggest, that SDS could also be associated with an increased risk for diabetes mellitus. Additionally, a small number of case reports in the literature describe a susceptibility to hypoglycaemia as a...

Background: Educating patients and families on the management of Type 1 Diabetes Mellitus (DM) has always been a challenge. Some endocrinologists educate patients and families with new onset Type 1 DM in the inpatient setting, while others have tried to do this process as an outpatient given the changes in the limits of inpatient coverage. Given the challenges in the education process, we must find new and innovative ways to educate patients and families efficiently in order t...