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)...

Whilst the rise in the prevalence of obesity has been driven by environmental factors, there is considerable evidence that body weight and fat mass are highly heritable traits. Differences in susceptibility to obesity between individuals have strong genetic determinants.Our strategy has been based on studies of patients with severe obesity where we hypothesised that major highly penetrant genetic variants were likely to be playing an important role.<...

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...

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The identification and characterization of patients with morbid obesity due to mutations in single genes has shed light on the molecular mechanisms underlying the hypothalamic regulation of appetite, body weight and endocrine axes.Two severely obese cousins in a consanguineous family were found to have undetectable levels of serum leptin and were homozygous for a frameshift mutation in the ob gene. These children were severely hyperphagic, constantly dem...

Whilst the recent rise in the prevalence of childhood 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 t...

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...