ESPE Abstracts

Among the acquired causes of growth hormone deficiency (GHD) in childhood, the most common reasons are benign or semimalign pituitary tumors - first and foremost craniopharyngiomas or dysgerminomas. We report on a very rare differential diagnosis in a 11-year-old, prepubertal boy with a growth arrest (1.1 cm in 2 years, height - 2.38 SDS). 2 growth hormone stimulation tests confirmed GHD (2,7 and 2,3 ng/ml after priming). There was mild central hypothyroidism (fT4 1.04 ng/dl, ...

Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by rec...

Background: Multiple endocrine neoplasia type 2B is a rare genetic syndrome caused by germline mutations in the RET proto-oncogene. Approximately 75% of MEN2B cases are sporadic and caused by de novo RET mutations, whereas 25% of cases occurs in families with an autosomal dominant inheritance. The most common RET mutation found in 95% of MEN2B patients is the substitution of the amino-acid threonine for methionine at codon 918. In infants with de novo mutation...

Introduction: Type 1 diabetes mellitus (T1DM) is characterized by insulin-producing pancreatic β-cells loss. Apo1/Fas, a glycosylated surface protein, is implicated in maintaining homeostasis of the immune system. Cytokeratin-18 (cCK-18) is a predictive marker of liver disorders in T2DM. Intercellular adhesion molecule-1 (ICAM-1) is considered a candidate gene for susceptibility to diabetes mellitus. Aim: To investigate the possible role of Apo1/Fas, cCK-...

Introduction: Residual C-peptide secretion has been associated with less hypoglycemic events and lower glycemic variability in patients with Diabetes Mellitus type 1 (DM1), primarily in adults. The authors sought to evaluate the association between residual C-peptide secretion in pediatric patients with DM1 and glycemic control variables.Methods: Cross-sectional study conducted in a level II hospital, in DM1 patients you...

Background: Obesity in adolescence represents a major health problem of our century owing to its epidemic proportions and the associated morbidity and mortality in adult life. In Greece, 41% of adolescents are overweight or obese.Aim: The aim of our study was to investigate the effectiveness of a comprehensive, multidisciplinary, personalized management plan at reducing the prevalence of overweight and obesity in adolesc...

Background: The adenylate cyclase 3 (ADCY3) gene encodes a membrane-associated protein involved in the formation of cyclic adenosine monophosphate (cAMP) from adenosine triphosphate (ATP). This gene seems to be is involved in the regulation of several metabolic processes and has been recently associated to pathophysiological metabolic conditions. Several ADCY3 variants have been linked with obesity in children.M...

Objectives: -To determine children diagnosed with central congenital hypothyroidism (CCH) by a screening program using TSH and total T4 between May 2016 and January 2019.-To analyze the characteristics of the disease in these children.Material and Methods: During the time of the study, 14.743 newborns have been screened. Cut-off points are used for TSH ≥10MU/ml and T4 6 and 20 mg/dl as lower ...

Introduction: NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in 46,XY disorders of sex development (DSD). The clinical, endocrine and genetic features of three 46,XY children from two unrelated families (A and B) with NR5A1 genetic variants are reported.P...

Background: Tissue glucocorticoid sensitivity is characterized by a considerable variation in terms of therapeutic response and side effects to synthetic glucocorticoids. The multi-metabolite concentration profile measured by untargeted plasma metabolomics provides a comprehensive metabolic signature that might be used in clinical practice.Objective and Hypotheses: To investigate the usefulness of plasma metabolomics in identifying a metabolic signature ...