ESPE Abstracts

Introduction: Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases produced by the total/partial blockage of the biochemical processes involved in thyroid-hormone synthesis and secretion. Many genes are involved in this process. PAX8 is a transcription factor essential for thyroid-gland morphogenesis and synthesis of thyroid hormones, since it activates TG, TPO and TSHR gene transcription. More than 50 PAX8</...

Background: due to its recently documented role in intercellular tight junction disassembly, zonulin has emerged as a valuable biological marker to assess the integrity of the intestinal mucosal barrier. Experimental studies have shown an association between intestinal permeability and obesity.Objectives: aim of this study was to investigate the relationship between serum zonulin levels, both at baseline and postprandial...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

The calcium-sensing receptor (CaSR) is a member of the G protein coupled receptor family. It is mostly found in the parathyroid gland and renal tubule. CaSR disorders occur with inherited or acquired mutations. Familial hypocalciuric hypercalcemia syndromes are associated with inactivating mutations in CaSR. The heterozygous form is “benign familial hypercalcemia” and the homozygous form is “neonatal hyperparathyroidism”. In this article, “benign ...

Background: Despite advances in genetic diagnosis and surgical technique, and guidance from the Consensus Statement on Intersex Disorders, aspects of clinical management in disorders/differences of sex development (DSD) remain unsettled. Actively debated decision points include gender of rearing in specific syndromes, genital surgery prior to the patient developing the capacity to provide assent, and uncertainty over how and when to best educate young patients about diagnostic...

Background: The prevalence of childhood obesity is high worldwide and predisposes to adult obesity and metabolic disorders. Many dietary approaches have been proposed to reduce this prevalence, but no single diet has proven to be superior to others in terms of long-term weight loss maintenance in children.Objective and hypotheses: To evaluate and compare long-term body weight changes among obese children and adolescents who had lost at least 10% of their...

Children with Type 1 diabetes are experiencing higher levels of overweight and obesity as a consequence of intensive insulin therapy as well as background socioeconomic and environmental factors that are contributing to excess adiposity in the general population. The consequences of obesity in people with type 1 diabetes are of particular concern, as obesity in adults increases the risk of both diabetes-related and obesity-related complications, including cardiovascular diseas...

Introduction: The main purpose of the study was to determine whether anthropometric measurements at preschool (PS)-age, in which physiological adiposity rebound is detected, and LT4 dose have an effect on the age of onset of puberty in children with hypothyroidism.Methods: This is an observational and retrospective study.Results: Puberty had begun in 44 girls and 25 boys out of 115...

Background: Endocrine disturbances are the most prevalent complications in childhood cancer survivors (CSS), especially in those treated with cranial and cervical radiation for brain tumours, such as medulloblastoma. Recent data have shown frequent delays in the diagnosis and treatment of these complications that may lead to potential side-effects on general health. Apart from the well-known hypothalamic–pituitary and growth disorders observed in CSS, th...

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...