ESPE Abstracts

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

Disorders of sex development (DSD) constitute an array of rare disorders affecting the genito-urinary tract and the endocrine-reproductive system and are often identified in the newborn or adolescent. Gene mutations causing DSD are slowly being identified using high-throughput sequencing, but the interpretation of the data and ascribing causality to novel variants is challenging. This is because DSD mutations occur in multiple genes with each gene affecting a small number of i...

Childhood obesity became a global plague: 9% of Italian children (17% of USA children) is obese and 21% is overweight. Nowadays only a small number of obese children undergoes genetic analysis, usually when obesity is associated with dysmorphic features. Our purpose was to identify genomic rearrangement causing obesity: we analyzed the DNA of 52 children by array-CGH (platform CytoScan-HD, Affymetrix). Patients included in our study were 29 males (55,8%) and 23...

Background: Recently, the puberty is becoming to start earlier. This early beginning of the puberty is multifactorially related to genes, hormones and environmental factors. It has been already known in many animal experiments that endocrine disrupting chemicals (ECDs) are deeply envolved in regulation of endocrine systems. However, clinical studies in humans are limited. Recently, the toy of 'Slim' which thought to contain ECDs such as phthalates is v...

Background: The increasing incidence of obesity is a serious global public health challenge. Endocrine disrupting chemicals (EDCs) are exogenous chemicals that interfere with the endocrine system, including adipose tissue. Increasing evidence from epidemiological, animal, and in vitro studies shows that EDCs, in particular bisphenol A (BPA) and phthalates (e.g. di-ethyl-hexyl-phthalate, DEHP), can affect body weight, adipogenesis and circulating lipid profile,...

Background: The incidence of obesity, especially in children, have dramatically increased over the last few decades. Recently, studies highlighted the involvement of gut microbiota in the pathophysiology of obesity. Gender-related differences have been reported in animal and adult. Nonetheless, reports related on the features of gut microbiota in children with obesity is limited and no one reported the different composition of gut microbiota at different sex o...

In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. In the study of sex determination, upregulation of specific genes in animal models has sucessfully led to male factor expression in XX cells in some animals but not in ...

Background: Irisin has emerged as a potential mediator of energy expenditure that may improve adiposity and glucose homeostasis. Irisin's metabolic benefits in animal models are convincing, but only promising regarding humans. Irisin's secretion by and its potential roles in several tissues have been associated with insulin resistance (IR). In modern societies, health problems associated with IR are quite common. One such condition, the enigmatic polyc...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Several factors including genetic predisposition, psychosocial and socio-economic conditions, diet and ethnicity may have contributed to this phenomenon. Epidemiological and animal studies have shown that the exposure to BPA and DEHP may be associated with early onset of puberty in girls.Objective: To investigate...

Objective: Dyslipidemia is a disease characterized by a genetic or multifactorial disorder of lipid and/or lipoprotein metabolism. Childhood dyslipidemia is a rare genetic metabolic disease that can cause serious cardiovascular disease and seriously endanger children's health.Methods: We retrospectively analyzed the clinical data of 10 patients with dyslipidemia who were admitted to the Department of Endocrinology, C...