ESPE Abstracts

Background: GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein–coupled receptor (GPCR) signaling. Mutations in GNAS are known to cause pseudohypoparathyroidism (PHP). Children with this condition are overweight, have learning difficulties, are often short and have skeletal changes and hormone resistance.Case report: We-herein-report a 6-month-old mal...

Introduction: Monogenic obesity is a rare form of obesity. It should be suspected if patients have severe early-onset obesity, rapid weight gain in the first 2 years of life, hyperphagia, positive family history, and additional clinical manifestations. Genetic testing is highly recommended in such cases, as new pharmacological therapies for several types of genetic obesity exist. Hence, we sought to evaluate the clinical, laboratory and molecular characteristi...

Background: Leptin, a hormone released from adipose tissue, exerts its influence through the leptin receptor located in the arcuate nucleus of the hypothalamus. Leptin receptor mutation is an extremely rare autosomal recessive monogenic disorder, caused by biallelic pathogenic variants in the LEPR gene. Individuals with leptin receptor deficiency exhibit rapid weight gain, severe early-onset obesity, hyperphagia, hypogonadotrophic hypogonadism, and T-...