ESPE Abstracts

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...

Background: Bone age (BA) tends to exceed chronological age (CA) in obese children. There are studies showing that insulin may directly influence skeletal growth. Objective: To determine whether there is an association between BA and glucose metabolism in a group of overweight and obese children.Methods: The study included 55 obese or overweight children, mean age: 11.56±3.07 years old. Anthropometric indexes (weight, height, BMI, waist circumferenc...

RANKL was identified as an osteoclast differentiation factor as well as a T cell-derived stimulator of dendritic cells. The essential role of RANKL in osteoclastogenesis has been genetically proven in both mice and humans. In addition, RANKL was shown to play a critical role in various tissues including the thymus, gut, and mammary gland. The fully human monoclonal antibody against RANKL, denosumab, has been successfully utilized and approved for the treatment of bone metastas...

Decreased resting metabolic rate (RMR) is a risk factor for the development and progression of obesity. Childhood obesity is accompanied by the development of metabolic disorders, which often persist in adults. The relationship between the rate of basal metabolism and development of childhood obesity complications is not well understood.Objective and hypotheses: Measure resting metabolic rate in obese children and assess the pronouncement of metabolic di...

Background: Thalassemia major is a hemoglobin disorder characterized by regular transfusion requirement. Despite the regular transfusions and advanced iron chelation protocols, endocrine complications have been reported as the frequent morbidities of the disease.Objective and hypotheses: The aim of the study was to i) investigate the prevalence of endocrine complications, ii) to examine the relationship between endocrine complications and metabolic param...

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers, and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children w...

Background: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...

Background: Small for gestational age (SGA) children who experience rapid and exaggerated postnatal catch-up are prone to develop insulin resistance and to progress faster into puberty, resulting in a shorter final height. Short, non-catch-up SGA children treated with recombinant human GH (rhGH) may present with the same sequence. In a previous controlled study from our group performed in short SGA children, metformin – added to rhGH therapy – improved endocrine-meta...