ESPE Abstracts

The calcium-sensing receptor (CaSR) is a member of the G protein coupled receptor family. It is mostly found in the parathyroid gland and renal tubule. CaSR disorders occur with inherited or acquired mutations. Familial hypocalciuric hypercalcemia syndromes are associated with inactivating mutations in CaSR. The heterozygous form is “benign familial hypercalcemia” and the homozygous form is “neonatal hyperparathyroidism”. In this article, “benign ...

Background: Despite advances in genetic diagnosis and surgical technique, and guidance from the Consensus Statement on Intersex Disorders, aspects of clinical management in disorders/differences of sex development (DSD) remain unsettled. Actively debated decision points include gender of rearing in specific syndromes, genital surgery prior to the patient developing the capacity to provide assent, and uncertainty over how and when to best educate young patients about diagnostic...

Background: The prevalence of childhood obesity is high worldwide and predisposes to adult obesity and metabolic disorders. Many dietary approaches have been proposed to reduce this prevalence, but no single diet has proven to be superior to others in terms of long-term weight loss maintenance in children.Objective and hypotheses: To evaluate and compare long-term body weight changes among obese children and adolescents who had lost at least 10% of their...

Children with Type 1 diabetes are experiencing higher levels of overweight and obesity as a consequence of intensive insulin therapy as well as background socioeconomic and environmental factors that are contributing to excess adiposity in the general population. The consequences of obesity in people with type 1 diabetes are of particular concern, as obesity in adults increases the risk of both diabetes-related and obesity-related complications, including cardiovascular diseas...

Introduction: The main purpose of the study was to determine whether anthropometric measurements at preschool (PS)-age, in which physiological adiposity rebound is detected, and LT4 dose have an effect on the age of onset of puberty in children with hypothyroidism.Methods: This is an observational and retrospective study.Results: Puberty had begun in 44 girls and 25 boys out of 115...

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...

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: Butyrate is a short-chain fatty acid closely related to the ketone body β-hydroxybutyrate (BHB) considered as the major source of energy during prolonged exercise. During fasting, when the liver switches to fatty acid oxidation, a rise in serum GH occurs concomitantly with the accumulation of BHB and short chain fatty acids (SCFA) acetate, propionate and butyrate. Interactions between GH, ketone body and SCFA during the metabolic adaptation to fasting are poor...

Background: Laparoscopic sleeve gastrectomy (LSG) has been established as a safe and effective bariatric procedure during adolescence, but its long-term results remain uncertain. Our aim was to report and compare the short- and long-term outcomes of LSG in adolescents.Methods: We performed a retrospective analysis of patients submitted to LSG between 2010 and 2013 in our Institution. Baseline, short-term (1 year) and lon...

Introduction: BIPSS before and after desmopressin stimulation has been shown to be a useful tool for diagnosis of ACTH-dependent CD and negative magnetic resonance imaging (MRI)or positive MRI but inconsistent biochemical data, in adult patients. However, little is known about its usefulness in pediatric population.Objective: To evaluate the prevalence of negative MRI, the sensitivity of BIPSS before and after desmopress...