ESPE Abstracts

Introduction: Term newborns Small for Gestational Age (SGA) have an increased risk for minor neurological impairment at pre- and school age. The general movements (GMs) assessment, in particular at Fidgety (F+) age, has been increasingly used to predict neurological dysfunctions. Aim of our study was to evaluate, in a population of term newborn SGA (gestational age >37 weeks) the growth recovery, the presence of F+ at 3 months of age, and the neurological outcome at 2 year...

Background: We have recently reported the molecular diagnosis of two patients with severe growth failure associated with a spectrum of early-onset autoimmune disease and immunodeficiency. Heterozygous de novo mutations, c.1847_1849delAAG (p.E616del) and c.1276T>C (p.C426R), in the STAT3 gene were found. Functional in vitro studies of these variants are presented.Objective and hypotheses: We...

Background: Dent’s disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. Growth retardation, due to resistance to GH action is a feature commonly associated with Dent’s disease.Case report: We describe a boy diagnosed with Dent disease, treated with recombinant human GH. He was initially referred at 6 years of age...

Background: SHOX deficiency is a frequent cause of short stature. GH therapy has been approved for growth promotion in individuals with SHOX mutations by FDA and EMEA.Case report: Three patients with Leri-Weill syndrome (LWS) started GH therapy at different chronological ages (CA). Patient 1 started GH+LHRHa at the CA of 13.4 years, height 148.4 cm (−1.5 S.D.), Tanner stage 4, bone age (BA) 13 years. Target height (TH) 160.5 cm (&#87...

Background: Pubertal timing is influenced by a complex interaction among genetic, nutritional, environmental and socioeconomic factors. Over the past 30 years a trend in pubertal timing anticipation has been demonstrated. Environmental factors involved in this phenomenon are mainly represented by endocrine disruptors compounds (EDCs), such as pesticides, industrial compounds and persistent organic pollutants, estrogens and phytoestrogens.Objective and hy...

Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility and an increased risk of fractures. Intravenous bisphosphonates are the current gold standard for the treatment of OI: the aim of this therapy is an increase in Bone Mass Density (BMD) and a consequent reduction in pathological fracture rates. Currently, the only bisphosphonate approved in Italy for pediatric population is neridronate, infused in hospital once every four months. In San Raffa...

Background: Paediatric pituitary adenomas comprise rare but challenging pathologies in children and adolescents related to their endocrine and neurological characteristics.Objective and Hypotheses: We aimed to describe a case report of growth hormone (GH)-secreting pituitary adenoma apoplexy.Method: a 11-year-old girl presented with fever, sudden headache with vomiting. She abruptl...

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

Objectives: To describe the patients with gender non-conforming referred to a pediatric medical center after creation of the multidisciplinary team "APEVAGE" (Ambulatorio Pediatrico per la Varianza di Genere, Pediatric Clinic for Gender Variance) composed by pediatric endocrinologist, psychologist and child psychiatrist at Institute for Maternal and Child Health "Burlo Garofolo" in Trieste. It is one of the 8 centers recognized by ONIG (Osserva...

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...