Endocrine Abstracts

Obesity is defined as excess body fat mass with adverse health consequences and is a chronic disease often associated with co-morbidities when it persists into adulthood. It is therefore important to support adolescents with obesity during the period of transition to adulthood in order to avoid the possible worsening of their medical condition. This risk is particularly important in the specific case of monogenic or syndromic obesities, especially as it is also a period of fra...

The leptin/melanocortin pathway plays a critical role in hypothalamic control of food intake. Variants in the genes involved in this pathway, such as leptin (LEP), its receptor (LEPR), proopiomelanocortin (POMC) or proconvertase 1 (PCSK1) are associated with early-onset severe obesity and endocrine abnormalities especially in case of homozygosity. Heterozygous variants in the melanocortin-4 receptor (MC4R) gene are associated with an increased risk of severe obesity. The aim i...