ESPE Abstracts

Background: While polycystic ovary syndrome (PCOS) is implicated with insulin resistance and obesity, little is known about the abnormal energy imbalance contribution to the disease. Basal metabolic rate (BMR) represents the energy expenditure by a normal subject at rest, remote from eating, in a thermally neutral environment, reflecting the 50–70% of total daily metabolism. The relevant literature is limited with conflicting results- worth meta-analy...

Background: Electromagnetic field (EMF) exposure has been considered a potential environmental toxicant, which may influence endocrine and other functions, while population awareness remains limited. In an earlier study, we demonstrated that EMF alters the hypothalamic-pituitary-adrenal axis in children using a 3G mobile telephone.Aim: To screen and compare the motives, knowledge and status of electromagnetic field expos...

This present study investigates the impact of a common environmental hazard, the radiofrequency fields (RF), such as those regarding cell phones, cell phone base stations, wi-fi, portable phones (DECT), etc., as close to the body sources of exposure, on endocrine function. This is of importance, particularly for developing children, that have been and are exposed to this potential hazard. We performed analyses on endocrine assessments regarding stress, thyroid hand reproductiv...

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...

Background: Congenital hypothyroidism is primarily due to thyroid dysgenesis (TD). The genes implicated in TD, account for a small number of patients with monogenic forms, less than 5%. Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis.Objective and hypotheses: To understand the role of Borealin mutations found in patients with TD.Method: We performed whole exome sequencing (WES) ...

Background: “Transient” Neonatal Diabetes Mellitus (TNDM) is a rare genetic beta cells dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Glucose homeostasis had not been investigated in adulthood.Objective and hypotheses: To investigate insulin secretion and insulin sensitivity in adults affected with TNDM or in their 1st degree mutated relatives.</p...

Background: Polycystic ovarian syndrome (PCOS) is the most common endocrine disease among women of reproductive age with a prevalence of about 8% according to the Androgen Excess Society (AES) criteria. The pathophysiology of PCOS is not well understood and it is associated with a high prevalence of metabolic disorders. During puberty, irregular menses and acne are common, thus making the diagnosis of PCOS in adolescence challenging.Objective and hypothe...

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

Purpose: Low areal bone mineral density (aBMD) is a well-known consequence of anorexia nervosa (AN). However, the impact of reduced energy expenditure on bone metabolism is unknown. This study assessed the effects of energy deficiency on bone remodelling and its potential interactions with glucose homeostasis and adipose tissue-derived hormones in AN, a clinical model for reduced energy expenditure.Methods: 50 women with AN and 50 age-matched controls (m...

CRN04777 is an orally administered nonpeptide that is a potent and selective agonist of somatostatin 5 (SST5) receptors and is currently under development for the treatment of congenital hyperinsulinism (HI), the most common cause of persistent hypoglycemia in newborns and infants. Congenital HI arises from mutations within the insulin secretion pathway and is characterized by excessive and/or inappropriate insulin secretion by pancreatic islet beta cells. This excess insulin ...