ESPE Abstracts

The new techniques of molecular genetics are revolutionizing our clinical practice. This causes benefits in the diagnosis and prediction of diseases in patients, but also raises new ethical concerns that must be addressed. One of them is the susceptibility to cancer due to genetic risk. Children can be especially vulnerable in this area, as they do not freely decide the way forward. Regarding thyroid cancer, it is important to know which genetic syndromes are susceptible to ca...

We present the case of a 16.5-year-old short, thin boy with Cushing disease. The first symptom of the disease was spinal pain and vertebral fractures attributed to osteoporosis. The patient was admitted to the clinic due to severe back pain. On dual X-ray absorptiometry (DXA), the Z-score TBLH was: -1.9, Z-score Spine: -4.2. The X-ray and magnetic resonance imaging (MRI) revealed multilevel fractures of the thoracolumbar vertebrae. The causes of this condition initially remain...

Introduction: Bone mineral density (BMD) is affected not only by genetic and enviromental causes, but various hormonal factors. It seems reasonable to seek for dependencies between BMD and paediatric endocrinopathies. The aim of the study was to assess the frequency of decreased BMD in children with several endocrinological disorders and evaluate the influence of selected auxological and hormonal parameters on their BMD.Materials...

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

Background: Follicle-stimulating hormone (FSH) plays a key role in reproduction. The G-protein coupled FSH receptor (FSHR), is expressed primarily in gonads, and specifically binds FSH. FSHR is also expressed in vascular endothelium, osteoclasts, adipose tissue, monocytes and rodent pancreatic islets. Elevated FSH levels are associated with development of obesity, insulin resistance, osteoporosis, and cardiovascular disease. In a recent study, we showed that h...

Introduction: When used to treat obesity, glucagon-like peptide 1 (GLP-1) receptor agonists (GLP-1RA) improve both BMI and metabolic health. Liraglutide is approved by both the EMA and FDA for the treatment of pediatric obesity, from 12 years and older. However, 26 weeks after discontinuation of liraglutide, the weight lost during treatment is regained. Prolonged exogenous stimulation of hormone-specific receptors may influence endogenous hormonal regulation. ...

Background: Variable rate intravenous insulin infusion (VRIII) is commonly used in unwell patients with diabetes and complex nutritional needs. However, frequent blood glucose monitoring with infusion rate adjustment gives rise to significant safety concerns and is extremely resource intensive. Fully closed-loop (FCL) systems are promising technological advancements in diabetes management. It comprises of continuous glucose monitoring and a control algorithm t...

Aim: to assess and follow-up anthropometric and biochemical parameters in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an intensive phase duri...

Introduction: Recently novel approaches, through implementation of next-generation sequencing (NGS) in clinical practice for genetic evaluation of idiopathic short stature, has permitted to identify new variants of genes which modulate function of growth plate, including heterozygous mutations of the aggrecan gene. Aggrecan, a large chondroitin sulfated proteoglycan, is a major structural component of the extracellular matrix of cartilage, including growth pla...

Background: Fanconi Bickel syndrome (FBS) is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner and caused by mutations in the SLC2A2 gene leading to the loss of GLUT2 glucose transporter expression. The disease is considered to be rare in which a little more than 100 cases have been reported in the literature. The SLC2A2 gene encodes for GLUT2, a low affinity facilitative glucose transporter expressed in critical tissues ...