ESPE Abstracts

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

Children and adolescents with obesity and clustering of cardiometabolic risk factors, such as hypertension, dyslipidemia, and prediabetes are exposed to endothelial damage, vascular and myocardial remodeling, and atherosclerosis. If not adequately treated, these alterations may contribute to early morbility and mortality for adverse cardiovascular events in adulthood. Physical activity (PA) plays an important role in the treatment of obesity and its cardiometabolic comorbiditi...

Introduction: Lysosomal Acid Lipase Deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesterol esters and triglycerides. Clinical manifestations are heterogeneous in terms of age of onset, severity and biochemical and radiological findings. Dyslipidemia, hepatomegaly and hepatosteatosis with hypertransaminasemia are the most common features. There is significant evidence of incre...

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these ...

Background: Adult subjects with Prader-Willi Syndrome (PWS) have low Bone Mineral Density (BMD) and are at risk of osteoporosis. Several observations suggest that peak bone mass is usually achieved by late adolescence, in the presence of adequate gonadal hormone concentrations. Consequently, the altered bone characteristics of PWS patients may be related to inadequate sex steroid levels during pubertal development.Aim: To investigate BMD in PWS females d...

Background: The glucose metabolism derangements (GMD) can have an important impact on nutritional status and respiratory function in patients with cystic fibrosis (CF).Objective and hypotheses: The aim of our study is to evaluate the effects of 4 years of glargine therapy in patients affected by CF and GMD.Method: All CF patients attended to the Center of Cystic Fibrosis of our department were screened by oral glucose tolerance tes...

Background: Adolescence is a critical period of life, and even more if a chronic illness is present like type 1 diabetes mellitus (T1DM). The healthy lifestyle practice is one of the pillars of the T1DM treatment.Objective and hypotheses: To evaluate the association between lifestyle and health related quality of life (HRQoL) in adolescents with T1DM.Method: Lifestyle and HRQoL were evaluated in 69 T1DM adolescents (34 male, mean a...

Background: In 2003 recombinant human growth hormone (rhGH) was approved by European Medicines Agency to treat short children born small for gestational age (SGA), but so far no study evaluated the prevalence of SGA children with short stature who qualify for rhGH treatment in Europe.Objectives: To investigate the prevalence of SGA and short stature in children born SGA and of SGA children who qualify for rhGH treatment ...

Objectives: To assess the long-term impact of prematurity on bone and body composition by using Dual-energy X-ray absorptiometry (DXA).Methods: DXA scans were performed in 100 preterm (PT) (n=42F, n=58M, mean weeks’gestation 31.5±2.6; range 26−36) and 51 born at term (BT) healthy infants (n=28F, n=23M). DXA measures of total body and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and Z...

Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restri...