ESPE Abstracts

Background: Carotid intima-media thickness (cIMT) is a well-known marker of subclinical atherosclerosis. The distribution of adipose tissue among visceral fat reservoirs rather than the total adipose tissue mass is more likely to be related to subclinical atherosclerosis.Objective: The aim of this study was to determine whether epicardial and perirenal fat are more related to cIMT than body adiposity in prepubertal child...

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

Introduction: Neurotensin is a 13 amino acid peptide with central and intestinal effects. It has been shown to decrease intestinal and gastric motility, increase the absorption of fat by regulating the release of pancreas and bile acid. In addition, it is reported that there is also an anorexigenic effect of the neurotensin released from the central nervous system. In the literature, conflicting results related to serum / plasma neurotensin levels were reporte...

Flash glucose monitoring is now included in the Portfolio of Services of the Public Health System of Andalusia in Spain. We enrolled 145 paediatric T1D diabetes patients into a prospective, interventional study of the impact of the FreeStyle Libre system on HbA1c levels in this population, as well as additional measures of glycemic health, such as Time in Range (TIR) and Time Below Range (TBR). Subjects were trained in use of the FreeStyle Libre system at the start of the stud...

Background: Low serum bilirubin and high serum triglycerides are independently associated with higher risk of developing metabolic syndrome. Both bilirubin and triglycerides can regulate insulin secretion and glucose uptake. This is a first longitudinal study in healthy children to associate bilirubin and the bilirubin/triglycerides ratio with metabolic markers.Objectives: Analyze independent associations between bilirub...

Introduction: Policystic ovarian syndrome (PCOS); is an endocrinopathy characterised by overlap of hyperandrogenism and hyperinsulinism and chronic anovulation. Etiopathogenesis is still not clearly defined. Fetuin-A is aserum glycoprotein. It is shown to play regulatory functions in many inflammatory processes. We aim to define the relationship of fetuin-A levels with hyperandrogenism and hyperinsulinism in PCOS patients and study the role in pathophysiology....

Introduction: Our Centre is an international referral centre for genetic analysis of children with short stature (SS) and features of GH/IGF-1 resistance. Following candidate gene and whole exome sequencing, diagnoses for ~50% patients remained elusive. Copy number variation (CNV) has not previously been investigated in GH/IGF-1 resistance and we hypothesised that CNVs contribute to the phenotype in our undiagnosed cohort.Experimental Design and Methodol...

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...