ESPE Abstracts

Introduction: The World Health Organization (WHO) European Regional Obesity Report 2022 stated that obesity rates have reached epidemic proportions across the European Union (EU). Obesity affects nearly one in three children (29% of boys and 27% of girls), and is associated with adverse psychological and psychosocial outcome and increased risk for noncommunicable diseases (NCDs). In addition, none of the 53 Member States are on track to meet the target of stop...

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

Introduction: Heterozygous variants of the melanocortin-4 receptor gene (MC4R) are the most common cause of monogenic obesity. Until recently, patients with monogenic obesity often underwent a frustrating diagnostic and therapeutic odyssey of years of ineffective lifestyle interventions before a causal diagnosis was made. Data from case reports suggest that individuals with obesity caused by heterozygous MC4R pathogenic variants can be effect...

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystemic neurocutaneous disorder characterized by an increased risk of benign and malignant tumor formation (neurofibromas, glioma and gastrointestinal stromal tumor). The incidence has been described to be around 1 in 2,500–3,500 live births, and the estimated prevalence is 1 in 4,000–5,000. Although it was first described by von Recklinghausen in 1882, the formal diagnostic criteria were pub...

Introduction: Monogenic obesity refers to a group of rare, early-onset forms of obesity and accounts for about 7% of patients with severe pediatric obesity. Recent reports demonstrate the emerging role of Src-homology-2 (SH2) B adaptor protein 1 (Sh2b1), an important component in the leptin-melanocortin pathway, as a key regulator of leptin and insulin signaling, with possible roles in the pathogenesis of obesity and diabetes. SH2B1 deletions are found to be a...