ESPE Abstracts

Background: Several bone metabolic pathways seem to be disrupted in patients with type 1 diabetes mellitus (T1DM), leading to reduced bone mass.Objective and hypotheses: Our aim was to study bone metabolism markers in children and adolescents with T1DM and their correlation with bone mineral density (BMD).Method: We evaluated 40 patients (mean±S.D. age 13.04±3.53 years, mean±S.D. T1DM du...

Introduction: The ESPE e-Learning web portal is a free, globally accessible online tool to enhance learning in Paediatric Endocrinology and Diabetes. Since August 2022, the e-learning content includes 30 accredited hours of ESPE/ISPAD e-learning Continuing Medical Education (CME) courses with ten core modules each in Paediatric Endocrinology, Paediatric Endocrinology in Resource Limited Setting (RLS) and Paediatric Diabetes. The CME modules were created by wor...

Background: Prader-Willi syndrome (PWS) is a rare genetic obesity syndrome associated with relative growth hormone deficiency. Scoliosis is a known association of both PWS and growth hormone therapy (GH), although its role in causation remains uncertain. In the literature, short-term and long-term data revealed no adverse effects of GH on scoliosis. As the metabolic and clinical benefit of growth hormone therapy is established in the management of PWS, it is d...

Introduction: Treatment adherence is crucial for the success of Growth Hormone (GH) therapy. Non-adherence rates have varied over a wide range from 5% to 80% in the literature. Several factors may have an impact on treatment adherence. Besides, with the COVID-19 pandemic that affected the whole world, there were problems with the hospital admission and routine controls of the patients who used GH treatment.Objective: The...

Background: Hashimito's Thyroiditis is influenced by genetic and environmental factors. Interleukin-2 receptor alpha chain (IL2RA) gene polymorphism and Cytotoxic T-lymphocyte antigen 4 (CTLA 4) gene polymorphism are known to be associated with HT, but have not been established in a Caucasian children population yet. The Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene polymorphisms impact on the development of HT in children has not been reported yet....

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

Background: Assessment of beta-cell function in type 1 diabetes (T1D) has important implications in both clinical and research settings. Studies are limited by the lack of adjustments demonstrating the extent to which puberty influences C-peptide levels. The aim of this study was to evaluate the influence of pubertal stage as well as age and body mass index (BMI) on multiple C-peptide measures at T1D diagnosis.Methods: T...

Aim: To describe the clinical pattern and laboratory characteristics at presentation of a group of children with type 1 diabetes mellitus living in the Northwest region (Trakya) of Turkey.Methods: The clinical and laboratory data of a total of 315 children who presented with newly diagnosed type 1 diabetes mellitus during a 12 year period (2006–2018) were retrospectively analyzed based on hospital records. The data were assessed by gender and age su...

Backround: Short stature (SS) is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of SS vary and are commonly grouped into pathological and nonpathological disorders. Despite standard clinical and laboratory evaluation, a pathological diagnosis is not reached in 50–90% cases.Aim: The aim of this study was to determine the etiologies and decribe the characteristic of short stature patients who were follo...

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...