ESPE Abstracts

Background: Accelerated catch-up growth following intrauterine growth restriction increases the risk of developing visceral adiposity and metabolic syndrome. Animal models of growth restriction during gestation have been developed as a powerful tool to provide insight into the underlying molecular mechanisms thereof.Objective: To analyze the patterns of gene expression in the retroperitoneal adipose tissue of rats with i...

Introduction: The presence of ZnT8 (zinc transporter 8) has been described on the surface of beta pancreatic cells in type 1 diabetic patients and the ZnT8 Ab (zinc transporter-8 autoantibody) has been recently established as a new marker of this autoimmune disease. There are studies demonstrating that ZnT8 may be of importance in some other endocrine cell types. In our study we wanted to verify the presence of ZnT8 in thyroid cells of children and adolescents...

We report a case of a child who presented with huge pericardial effusion complicated to cardiac tamponade secondary to primary hypothyroidism. Due to the severity of cardiac tamponade, pericardiocentesis was performed to relieve the compression effect. The child improved with Levothyroxine treatment.Hypothyroidism is a rare cause of pericardial effusion in children. If the pericardial effusion increases in volume, cardiac tamponade with clinical...

Background: The new adipokine/myokine meteorin-like (Metrnl) has been proposed to be of interest for obesity and metabolic disease through its potential role for brown/beige fat thermogenesis and macrophage activation in mice. METRNL was reported to be expressed in white adipose tissue (AT) and upregulated during adipogenesis and by exercise and.Aims: In this study we analysed the expression of METRNL during human adipogenesis and its regulation...

Introduction: A 12-year-old girl has been accepted in our emergency room for persistent abdominal pain associated with nausea, dysuria and difficulty walking. Abdominal pain is localized on the left side and is acute, stabbing, intermittent and non radiating. The menstrual cycle is normal, both in duration and intensity. Family history does not reveal a significant background. The girl is apyretic with normal vital parameters. The abdomen appears expanded and ...

Background: It is often difficult to establish whether hyperthyrotropinemia in preterm newborn is a simple physiologic energy sparing phenomenon or a true hypothyroidism requiring replacement treatment.Objective and hypotheses: This study aimed to find in what extent thyroid function in the preterm newborn can be influenced by clinical characteristics and complications.Method: We studied 35 preterm newborn, gestational age (GA) 32....

Background: GH deficiency (GHD) occurs due to different aetiologies, morphological abnormalities in pituitary, or mutations leading the individual to lose the genetic growth potential. The pituitary dysfunction can be as GHD alone or associated with other hormones deficiencies. Patients with abnormalities in pituitary may present a greater height loss than others and couldn’t reach the target height (TH) according to final height (FH).Objectives: To...

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant...