ESPE Abstracts

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...

Background: Pelvic ultrasound is used for the diagnosis and follow-up of girls with precocious puberty (PP). This tool may be somewhat misleading, because during treatment some patients may persist with pubertal uterine and ovarian anatomy. Oestrogens decrease the resistance of the uterine arteries, so Doppler evaluation of these vessels might be a useful complementary exam to determine the effects of treatment in these patients.Objective and hypotheses:...

Introduction: Endocrinopathies are common features of intracranial germ cell tumours (IC-GCTs), either as presenting symptoms caused by tumour itself or as side effects of treatments.Aims: We examined the development of endocrine dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow up.Methods: We collected clinical, radiological, histopathological and hormonal...

Introduction: Delays in diagnosis of IC-GCTs in the paediatric age have been frequently reported, affecting outcomes and prognosis.Aims: This study analysed clinical features of children with IC-GCTs treated at two European tertiary centres in the last 25 years. We retrospectively reviewed time lag between symptoms onset, radiological findings and definitive diagnosis of IC-GCT.Methods: Presenting ...

Introduction: Endocrino disruptors (EDs) are substances that interfere with hormonal function. The long list of EDs includes multiple natural compounds and numerous synthetic chemicals such as bisphenol A (BPA). BPA is present in plastics used in common products (Packaging, bottles, toys, digital media, etc). Several studies have shown its ability to alter the regulation of developmentally relevant genes, inhibit the synthesis of sex hormones and induce the pr...

Introduction: Bartter syndrome (BS) is a rare genetic renal tubular disorder characterized by hypokalemia, salt-wasting and metabolic alkalosis. Polyuria, polydipsia, hypokalemia and salt loss are responsible for the growth retardation seen in BS. Persistent growth failure despite optimizing medical therapy may be due to growth hormone (GH) deficiency.Case diagnosis and treatment: A 9-year-old girl diagnosed with Bartter...

Background: Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability, affecting postnatal growth. We have recently reported the first mutations in human PAPP-A2 causing short stature and changes in bone size and mineral density. However, the IGF system is involved in diverse physiological functions and to date it is unknown how mutations in PAPP-A2, which significantly reduce f...

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

Background: The approach to clinical management of Graves’ disease (GD) is debatable.Objective: This study aimed to identify predictors of remission in pediatric GD.Methods: A longitudinal study of 36 children and adolescents with Graves’ disease followed from 1997 to 2017 at a single pediatric tertiary hospital was performed. Clinical and biochemical parameters, including comorbidities, treatment with anti-thyroid drugs ...