ESPE Abstracts

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

The action of Thyroid hormone (T3) is mediated by the binding to nuclear receptors (TRa1, TRα1/2), which are ligand dependent transcription factors, encoded by the THRA and THRB genes. THRA germline mutations cause a rare genetic disease called resistance to thyroid hormone α (RTHα) first reported in 2012 . Only 20 missense and frameshift mutations have been reported to date, From this small group of patients, and analysis of animal models, it emerges that the d...

Introduction: Maternal caloric restriction during gestation leads to offspring’s metabolic programming through epigenetic changes, which increase the risk of developing cardiovascular diseases in adulthood.Objectives: To study in a swine animal model: i) DNA methylation changes associated with caloric restriction during gestation in the adipose tissue of the offspring; and ii) the reversibility of these changes by metformin treatment.<p class="a...

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

Background: Gonadotropin-releasing hormone (GNRH) and its receptor (GNRHR) are central regulators of puberty. Loss-of-function mutations of the GNRH-GNRHR signaling pathway are associated with congenital hypogonadotropic hypogonadism, but no mutations were reported so far in patients with central precocious puberty (CPP). Animal data demonstrate the importance of microRNAs in pubertal timing regulation. Among others, miR200b regulates Gnrh1 gene expression in GnRH neu...

Objective: Most recent evidence from conducted in human and animal studies suggests that vitamin D has a potential role in the physiology of reproductive function in both genders. We investigate the role of vitamin D in male and female gonadal function at mini-puberty period with particular emphasis on production of sex steroids and gonadal peptide hormones. Additionaly, this study evaluated serum levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradio...

Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare condition (estimated incidence 1:4–8 million), caused by mutations in LMNA gene, which leads to premature aging. Median life expectancy is shortened to 13 years due to vascular complications such as stroke or myocardial infarction. We present below the history of a child born with a pathogenic LMNA variant c.433G>A (p.Glu145Lys). A male patient was referred due to failure to thrive and low growth velocit...

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...

DCCR is a once daily tablet formulation of the choline salt of diazoxide, a KATP channel agonist. DCCR is being developed for the treatment of hyperphagia in Prader-Willi syndrome (PWS), the most common genetic cause of life-threatening obesity. In a phase 2 study, DCCR treatment resulted in significant reductions of hyperphagia and aggressive behaviors. Diazoxide increases glucose by decreasing beta-cell insulin secretion in hyperinsulinemic conditions. However, ot...

Background: The excessive consumption of sucrose, primarily used in sweetened beverages, has been considered an important inducer of cardiometabolic diseases. Besides the association between metabolic syndrome and fructose found in animal models, literature is lacking prospective studies in humans, especially in paediatric ages.Objective and hypotheses: We assessed the effect of sugar-sweetened beverages reduction on markers of metabolic syndrome in obes...