ESPE Abstracts

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

Noonan syndrome is a genetic condition caused by dysregulation of RAS-MAPK pathway (RASopathy) characterized by great clinical variability and genetic heterogeneity. Many genes has been associated with the disease, including recently LZTR1, which is causative of both dominant and recessive forms. Currently less than one hundred cases of Noonan syndrome has been associated with LZTR1 variants then phenotype related to this gene is poorly known. Here we describ...

Objective: The Easypod Connect Observational Study (ECOS) is a prospective long-term observational study aimed at evaluating the level of adherence in patients receiving growth hormone via the easypod device. ECOS started in 2010 in 24 countries. The easypod auto-injector device enables accurate records of patients’ adherence to recombinant human growth hormone (r-hGH) to be collected, providing real-world data for evaluation. We present three years prospective adherence ...

Introduction: Type 1 Arnold Chiari syndrome (extension of cerebellar tonsils into the foramen magnum without involving the brain stem) causes ataxia, dysphagia, headache, breathing problems… So far, an association between Arnold Chiari and autoimmune diseases has not yet been described in literature.Case 1 description: M.V., on term third born, spontaneous delivery, non complicated pregnancy, normal physical and psychological development stages. He...

Background: Growth hormone (GH) therapy typically involves daily administration of recombinant-human growth hormone (r-hGH) injections over many years. Long-term treatment attracts substantial costs due to the regular usage of injector pens. We conducted a study to understand the environmental impact of reusable and disposable GH injector pens.Aim: To assess environmental sustainability of Aluetta® reusabl...

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia. Even though skull and cranio-vertebral anomalies of potential neurosurgical interest are observed in children with XLHR, their actual incidence and characteristics are not well established. We aimed to analyze the incidence of Chiari type I anomalies in children with XLHRMethods and materials: Our retrospecti...

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...

Introduction: Precocious puberty (PP) is defined as the appearance of thelarche before the age of 8 years, in girls. The gold standard for the diagnosis is represented by the increase of LH level after stimulation with native GnRH, but a feasible alternative involves the administration of GnRH analogues. This test is poorly standardised and currently literature lacks of defined values to confirm the activation of the hypothalamic-gonadal axis, since they depen...

Introduction: Hyperthyrotropinemia is common in patients with obesity and has been hypothesized that high TSH could be associated with an adverse metabolic profile. Few studies have been performed in pediatric population and the results are controversial.Objective: Aim of the study was to evaluate the association between TSH and metabolic syndrome (MS) in a large group of obese children and adolescents.<p class="abst...

Context: Craniopharyngiomas are rare, suprasellar tumours with excellent 5-year survival rates of 95%. Despite their benign histology, their tendency to invade vital nearby optic, hypothalamopituitary and vascular structures, complicates resection whilst potentially causing secondary life limiting morbidity, panhypopituitarism and premature mortality. Since 1997, conservative hypothalamic-sparing surgery and radiation to the residual tumour has replaced aggressive resection at...