ESPE Abstracts

Background: Mutations in the RET gene have been described in subjects with multiple endocrine neoplasia Type 2 (MEN 2A). MEN 2A is a rare autosomal dominant disorder characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands. Patients develop either C-cell hyperplasia or medullary thyroid cancer, pheochromocytoma, and in some cases hyperparathyroidism.Objective/Method: To descr...

Background: Familial hypercholesterolemia (FH) leads to markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and is associated with a significantly increased cardiovascular mortality already in childhood and adolescence. FH is caused by dominant mutations in the genes encoding LDL-receptor (LDLR), ApoB-100 and protein convertase subtilin/kexin9 (PCSK9), whereas rarely recessive forms due to mutations in LDL receptor adaptor protein 1 (LDLRAP1...

Background: Recently PTF1A enhancer mutations have been described in subjects with early-onset exocrine and endocrine pancreas insufficiency.Objective: To describe the clinical course in three children with PTF1A enhancer mutations, in particular anthropometric development, insulin requirement and diabetes control.Method: Retrospective analysis of growth, weight and BMI development as well as insulin requirement and HbA1c level in ...

Background: Low birth-weight (bw) and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. However, very little is known about the impact on thyroid function.Objective and hypotheses: We observed genetically identical twins with intra-twin bw-differences from birth until adolescence to objectify the impact of a lower bw on development and health in later life.Method: Bw-difference of...

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaired development and function of the adrenal medulla. The clinical management of classic 21-...

Background: The prevalence of obesity has increased dramatically in Greece in the last two decades, and more than 35% of children and adolescents are currently overweight or obese. Prevention could be the key strategy for controlling the current epidemic of obesity.Objective and hypotheses: Prevention is the main scope of the Program entitled ‘Development of a National System for the Prevention and Management of Overweight and Obesity in Childhood a...

Background: Polycystic ovary syndrome (PCOS) is a complex endocrine genetic disorder, which is associated with increased metabolic and cardiovascular morbidity. Vitamin D or omega-3 fatty acids supplementation may alleviate the metabolic and reproductive complications of PCOS.Objective and hypotheses: To compare clinical, psychometric, biochemical, endocrine, bone and sonographic markers in vitamin D sufficient adolescents with PCOS, pre- and post- 6 mon...

Background: Obesity in childhood and adolescence represents one of the most challenging public health problems of our century. The prevalence of overweight and obesity in Greece is approximately 21% in children younger than 6 years and up to 40% in older children and adolescents. Mild elevations of TSH concentrations are often detected in obese children and adolescents.Aim: To investigate the thyroid function in overweig...

Introduction: The anxiety for hypoglycemia is a major stress factor for parents of children with T1DM and has been associated with poor diabetic control, reduced insulin doses and school-age children.Purpose: To determine the frequency and severity of parental anxiety for hypoglycemia and the associated factors.Patients and methods: The study included parents [21 (23.9%) fathers and 67 (76.1%) mothers] of 88 T1DM patients, with a m...

Background: Obesity in childhood and adolescence represents a major health problem that reached epidemic proportions in the last decades. Obesity is characterized by an increase in the adipose tissue, which leads to chronic inflammation and release of adipokines, like Fibroblast Growth Factor 21 (FGF21). On the other hand, intense exercise results in decreased adipose tissue, which leads to the release of proteins, the myokines, like irisin. In obesity a resistance in FGF21 an...