Endocrine Abstracts

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Childhood obesity is a major and growing clinical concern strongly influenced by environmental factors such as changes in diet and levels of physical activity. However, within a given environment, some children develop severe obesity which is strongly influenced by inherited factors which modulate eating behaviour and energy expenditure. We have studied a cohort of individuals with severe, early onset severe obesity (n=6000) called the Genetics of Obesity Study (GOOS)...

Professor Sadaf Farooqi, Cambridge, UK AbstractThe European Journal of Endocrinology Prize is awarded to a candidate who has significantly contributed to the advancement of knowledge in the field of endocrinology through publication. This year's recipient is Professor Sadaf Farooqi. The prize will be presented as part of the ICE/ECE 2012 opening ceremony where Prof. Farooqi will deliver her lect...

Whilst the recent rise in the prevalence of obesity has been driven by environmental factors, there is considerable evidence from twin and adoption studies that body weight and fat mass are highly heritable traits and differences in susceptibility to obesity have strong genetic determinants. The identification of patients with mutations in the gene encoding the hormone leptin, and their successful treatment with recombinant human leptin, have provided insights into the role of...

Sadaf Farooqi, Institute of Metabolic Science, Cambridge, UK AbstractSadaf Farooqi qualified with Honours in Medicine from the University of Birmingham, being awarded the gold medal. After hospital posts in Birmingham and Oxford she moved to Cambridge to undertake a PhD with Professor Stephen O'Rahilly. She identified the first single gene defect to cause human obesity in patients with a mutation in the leptin gene, p...

Background: Obese children are at greater risk of fracture. However, previous evidence suggests that obese children with a mutation in the melanocortin-4 receptor (MC4R) have a high age-adjusted bone mass. MC4R deficiency is associated with increased linear growth, so bone mass may be over-estimated due to patients being taller. We therefore aimed to compare body size-adjusted bone mass of lean and obese pre-pubertal children with those who have a mutation in MC4R.<p class...

Heterozygous mutations in GNAS1, which encodes the Gαs protein involved in multiple signalling pathways, are classically associated with Albright’s Hereditary Osteodystrophy (AHO). GNAS1 is one of few genetic loci that undergo allelic-specific methylation resulting in the parent-specific expression of at least four different transcripts. The classic constellation of phenotypic features includes short stature, round face, brachydactyly, obesity, dental hypopl...

Introduction: Rare genetic causes of obesity result from disruption of the melanocortin-4 receptor (MC4R) pathway, a regulator of energy balance. Patients with obesity due to variants in multiple genes, including POMC, LEPR, SRC1, and SH2B1, have shown weight and hunger reductions after treatment with setmelanotide, an MC4R agonist. DAYBREAK is a Phase 2 trial of setmelanotide in patients with additional gene variants with suggested relevance to the...

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with hypothalamic damage. Its pathophysiology is incompletely understood, and is associated with hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various appetite-regulating hormones in HyOb and ‘simple’ obesity.Methods: Oral glucose-stimulated serum insulin and plasma oxytocin concentrations, and fasting concentrat...