ESPE Abstracts

Introduction: PTEN hamartoma tumor syndrome (PTHS), a rare genetic disorder, increases the risk of endocrine-related benign and malignant tumors like thyroid, endometrial, breast, and kidney tumors, as well as syndromes like Cowden syndrome (CS), which can cause genodermatosis. The MUTYH gene increases colon cancer risk. Pathogenic MUTYH and PTEN gene variants are autosomal dominantly inherited and 50% likely to pass on.<p class=...

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...

Introduction: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programmes are not always sensitive and effective enough to detect the disease. We aimed to evaluate the specificity, sensitivity and efficiency of the national NBS for CAH in Lithuania.Methods: retrospective study...

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: Small for gestational age (SGA) birth size has been associated with various metabolic, hormonal and reproductive problems in later life.Objective and hypotheses: We aimed to compare differences in sex hormones, uterine and ovarian sizes in SGA and appropriate for gestational age (AGA) adolescent girls.Method: 23 SGA and 47 AGA pubertal 11–14 years old girls (median age 13.2±1.94 years, median pubertal stage 4&...

Background: Overweight (OW) and obesity in paediatric population has been shown to be associated with an increase in prevalence of insulin resistance and type 2 diabetes (T2D) in youth.Objective and hypotheses: The aim of this study was to assess the efficiency and safety of metformin use in combination with lifestyle changes or alone for weight management in OW and obese (OB) children and adolescents.Methods: Study included 145 10...