ESPE Abstracts

Introduction: The French Reference Centre PRADORT set up a national Access® database in 2005 for children diagnosed with Prader-Willi Syndrome (PWS). The medical, socio-demographic and family data of 813 patients were then collected.Method: We aim to analyse the evolution of diagnosis and care over time, according to the birth year of patients by comparing 3 groups (patients born between 2005 to 2009, 2010 to 2014 an...

Introduction: The prevalence of overweight and/or obesity is approximately 2 times higher in people with intellectual disability (ID). Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder linked to hypothalamic dysfunction. People with PWS display ID and a characteristic nutritional trajectory ranging from anorexia to hyperphagia, leading to early severe obesity. Other rare diseases with ID are associated with eating disorders and overweight. Toda...

Background: Congenital adrenal hyperplasia (CAH) can present with salt loss, hyperkalemia and arrhythmias in the neonatal period. If CAH is not diagnosed and treated early, neonates are susceptible to sudden death in the first few weeks of life. This problem is particularly critical in boys who have no genital ambiguity to alert physicians before the onset of dehydration and shock.Objective and hypotheses: We recommend that a diagnosis of CAH be consider...

Background: Alström syndrome (AS) is a rare genetic ciliopathy characterized by severe early-onset obesity, hyperphagia, retinal dystrophy, hearing loss, and cardiomyopathy. Rodent studies suggest that cilia play an important role in the leptin-MC4R pathway, which regulates energy balance and body weight. Setmelanotide, a peptide agonist of the MC4R, has led to weight loss in individuals affected by other rare genetic obesity disorders resulting from dysfunction in this p...

Background: Age at menarche in girls varies widely between individuals, is a heritable trait and is associated with risks for adult obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality.Objective and Hypotheses: The mechanisms that determine pubertal timing and underlie its links to later disease remain unclear.Method: We performed a genome-wide association study meta-analysis of genome-wide or den...

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...