ESPE Abstracts

Background: Thyroid nodules are quite common in the adult population (13%)but are relatively rarely diagnosed in childhood (0.2-5%).There is a significantly higher risk of malignancy of paediatric thyroid nodules than that in adult patients. The authors of this publication present the observations of the occurrence, diagnosis, and treatment of patients with thyroid nodules in the Department of Pediatric Endocrinology and Diabetology, Medical University...

Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.<stro...

Background: One of the speculated causes of the decreasing age of onset of type 1 diabetes is the increase in body weight in children. This so-called accelerator hypothesis is, however, controversial. The aim of the study was to test whether younger age of type 1 diabetes onset is associated with higher BMI-SDS at the time of diagnosis.Methods: Retrospective data analysis from medical records of all patients und...

Background: It remains unclear whether cardiometabolic and vascular risks in Turner syndrome (TS) are the consequence of unidentified intrinsic factors or, conversely, the result of modifiable risk factors, such as overweight. New markers that could explain the pathogenesis of metabolic complications are under investigation.Objective: The comparison of the selected biochemical cardiometabolic risk markers between TS patients and healthy controls.<p c...

Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.Objective and hypotheses: To e...

Background: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder. The pathogenesis of this disease has not been clarified so far. It is hypothesized that visceral hypersensitivity observed in IBS is associated with the activation of immune system and development of low-grade inflammation in the intestinal mucosa. Previous studies have shown that hormonal function of adipose tissue in inflammatory bowel disease is disturbed. However, there is only a few repo...

Background: Prader-Willi Syndrome (PWS), due to loss of paternal gene expression on chromosome 15q11.2-13, is characterized by hypotonia, hypothalamic-pituitary dysregulation, abnormal respiratory drive, and hyperphagia. GH, often started in infancy, improves tone, body composition, and height. Concerns about sudden death in children with PWS started on GH, hypothesized secondary to worsening obstructive sleep apnea (OSA) from adenotonsillar hypertrophy, resulted in guidelines...

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...

Introduction: Medical advances result in cure and life extension. Modern methods of oncological treatment lead to late endocrinological side effects.Objective of the study: The aim of the study was to assess the patients’ knowledge of possible result of chemotherapy and its long-term effects linked to gonadal dysfunction.Materials and methods: The survey covered a group of 92 (62 women) patients with hematologic neoplasms at t...

Background: Estrogen replacement is a treatment of choice for pubertal induction in adolescent girls with ovarian failure due to Turner syndrome (TS). Recently published data show, that prepubertal low dose estrogen replacement is more physiologic, and can optimize response to growth hormone treatment, pubertal timing, and improve cognition. The metabolic effects of such treatment regimen have not been fully investigated to date.Objective and hypotheses:...