ESPE Abstracts

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...

Background: Glucocorticoid (GC) treatment is associated with many unwanted effects but osteoporosis and fractures are the most serious adverse events. Several large case–control studies have shown strong associations between exposure to glucocorticoids and the risk of fractures. By other hand, multiple factors have been associated with avascular necrosis (AVN) in systemic lupus erythematosus (SLE), but it is steroid use that has been...

Keywords: transgender, GnRH agonists, gender affirming hormones, final height, growth, pubertyBackground: Trans boys (TB) and trans girls (TG) who start medical gender-affirming treatment at Tanner stage 2-3 undergo early puberty suppression (ePS) with Gonadotropin-Releasing Hormone agonists (GnRHa) for several years and subsequently receive gender-affirming hormones (GAH), around 15-16 years. This treatment clearly inte...

Introduction: The leptin-melanocortin pathway is a well-studied pivotal player of body weight regulation and energy homeostasis. Pathogenic mutations of the genes involved in this pathway may result in early-onset severe obesity (ESO).Case Report: We hereby report the case of a 14-year-old girl who was referred to our pediatric outpatient clinic for the evaluation of ESO. Her parents were non-obese first cousins born in Morocco. At the t...

Background: The DNA-binding High Mobility Group Box-1 (HMGB1) is an intracellular gene regulator that can be secreted also in response to inflammatory mediators, including interleukins, binding subsequently to both RAGE and Toll-like receptors forming a self-reinforcing inflammatory circle. Cystic fibrosis (CF) is a condition characterized by chronic inflammation. Elevated serum HMGB1 concentrations were described in serum of obese children and to be associated with the metabo...

Introduction: CFTR-modulating therapy aims to restore CFTR function. It improves lung function and quality of life in CF patients however, its effects on glucose metabolism are not yet well defined.Methodology: Retrospective and longitudinal study.Inclusion criteria: patients with CF genetic diagnosis ≥10 years old on modulator therapy (ivacaftor + lumacaftor or ivacaftor + teza...

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...

Bone fragility is a more typical condition of old age, linked to physiological aging. In pediatric age, on the contrary, it represents a rare problem, but more often has an underlying primary cause. This condition manifests itself in most cases with recurrent or abnormal fractures and bone deformities, with a limitation of mobility, bone pain and consequent reduction in the quality of life of the child. The great difficulty for the clinician consists in reaching a correct diag...

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...

Objective: There is no agreement about which index of adiposity and/or body composition is the most accurate in identifying the metabolic syndrome (METS). The aim of our study was to compare the accuracy of the different indexes in order to recognize the most reliable.Study Design: We evaluated 1332 obese children and adolescents (778 females and 554 males), aged 14.4 ± 1.8 yrs., Body Mass Index (BMI) standard devia...