ESPE Abstracts

The obesity pandemic is likely multifactorial, comprised primarily of reduced caloric expenditure and increased caloric intake secondary to dietary changes, coupled with host genetic predisposition and other environmental exposures. The role of the host microbiome in metabolism, energy expenditure, and metabolic disorders, including obesity, has more recently come under scrutiny as well. For example, several perturbations in the host microbiome have been associated with obesit...

Subclinical hypothyroidism (SH) is a biochemical condition defined by increased TSH serum concentration above the upper limit of the reference range associated with normal concentrations of T4 and Free T4. Depending on the degree of TSH elevation SH can be defined mild for TSH values between 4.5-10 mIU/l and severe for TSH levels >10 mIU/l.The major cause of SH is chronic autoimmune thyroiditis, other causes are persistent neonatal hyperthyrotropinem...

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...

Introduction: Type 1 Diabetes (T1D) is an autoimmune disease where β-cells of the pancreatic islets are destroyed. The vast majority of T1D cases are not due to genetic predisposition, implying that the prevalence is associated with environmental, nongenetic factors. One such factor is the microbiome and its correlation with T1D has been investigated in a multitude of studies.Aims: To investigate whether the curr...

Introduction: Heterozygous familial hypercholesterolemia is as frequent as 1: 200-500, and the mortality risk is four times more than unaffected children.Nutritional therapy in addition to physical activity can help but is not enough to avoid later morbidity and mortality. Stations have shown efficacy in children, but we do not have enough data for long term safety.Aim: to compare tow regimens of therapy using rosuvastat...

Background: Pallister-Hall syndrome (PHS) is a rare autosomal dominant disorder characterized by a complex of different abnormalities (polydactyly, bifid epiglottis, hypothalamic hamartoma, imperforate anus). Syndrome is cuased by mutations in the GLI3 gene. PHS is associated with hypopituitarism, early or precocious puberty.Objective: to demonstrate a patient with PHS treated with growth hormone (GH) and gonadotropin re...

A 11years-old Italian severely obese prepubertal female (BMI: 32.4 kg/m2; SDS-BMI: 2.63) was admitted to the emergency department due to worsening dyspnea and chest pain associated with severe polyuria, lethargy and lost weight from (85 kg to 78 kg in 7 days). She has history of severe hypertension treated with amlodipine and bisoprololo and a positive family history of Type 2 diabetes. At admission, she was dehydrated and lethargic, but can be awakened after painful and verba...

During morphogenesis, embryonic progenitors proliferate, differentiate and establish the shape of the future organs and tissues. In the mature organism, a certain degree of plasticity and potential for regeneration is retained as most organs maintain a population of adult stem cells sharing important similarities with embryonic progenitors; they are characterized by the ability to both self-renew and differentiate into the full range of the specialized cell types corresponding...

Leptin is a type I cytokine and belongs to the long-chain helical cytokine subfamily just as GH, IL-6 and G-CSF. Leptin is produced mainly in white adipose tissue and thereby reflects body energy stores. Leptin serum concentrations are high in obese and low in underweight individuals or in those with low body fat e.g. in athletes and in patients with lipodystrophy. The leptin/leptin receptor system is crucial for the regulation of body weight. Rare homozygous mutations in the ...

High-throughput biomolecular (omic) analyses enabled the simultaneous quantification of hundreds or thousands of transcripts, proteins, metabolites in a biological system, contributing to the identification of discriminatory multi-component molecular profiles of a pathophysiology. Molecular quantities being interconnected, even subtle differences in one can carry significance if viewed in the context of the observed changes in the rest of the molecules. We can now view molecul...