ESPE Abstracts

Background and aims: The introduction of next-generation sequencing (NGS) as an essential tool for the routine molecular diagnosis of DM has highlighted the under-diagnosis of monogenic diabetes mellitus (MonDM). Accurate molecular diagnosis of the MonDM subtype has important implications for prognosis and choice of treatment, family counseling and health management, enabling precision medicine. The main objective was to clinically and molecularly characterize...

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...

Aim of the Study: ADAM/ADAMTS family members encode extracellular, multidomain proteolytic enzymes. Mutant Adamts16 mice display cryptorchidism and sterility. We hypothesize that gonadotropin-regulated ADAM/ADAMTS genes are involved in testicular development during mini-puberty.Patients and Methods: Testicular biopsies for histological and RNA-Sequencing analysis from bilateral cryptorchid boys were analyzed. RNA samples...

Background: Accelerated catch-up growth following intrauterine growth restriction increases the risk of developing visceral adiposity and metabolic syndrome. Animal models of growth restriction during gestation have been developed as a powerful tool to provide insight into the underlying molecular mechanisms thereof.Objective: To analyze the patterns of gene expression in the retroperitoneal adipose tissue of rats with i...

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: 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...

Background: Turner syndrome (TS) is caused by complete or partial of the second sex chromosome and characterized bygrowth failure, primary ovarian failure, the constellation of the lymphedema sequence, characteristic facial features, left-sided cardiac anomalies, renal anomaly, and skeletal anomalies. Among all of the associated traits, cardiovascular abnormalities are common in TS and an important cause of early mortality. Hence, our aim is to investigate the...

The accumulation of adipose tissue, especially visceral fat, represents a risk factor for reduced bone mineral density and spontaneous fractures. Several mechanisms have been proposed to explain the complex relationship between adipose tissue and bone. Obesity is associated with the production of inflammatory cytokines both by adipocytes and immune cells which may stimulate bone resorption and reduce bone strength. Studies in vitro and in vivo have reported t...

Background: Although adequate hydration is recommended for healthy nutrition, the link between less water consumption and obesity is not exactly known. It was demonstrated that less hydrated adults had a higher body mass index (BMI). Data in children are rather limited. Our aim was to compare the hydration status between obese and non-obese children.Subjects and methods: Children aged between 7 and 18 years who had a BMI over 2 standard deviation score (...

Background: Nutrient deprivation during early development has been associated with the predisposition to metabolic disorders in numerous epidemiological studies. Experiments with rodents also indicate a developmental plasticity of neuropsychological characteristics following alterations of early postnatal nutrition.Objective: Considering its interaction with metabolism and regulation of appetite and behavior, the endocannabinoid system (ECS) may represen...