ESPE Abstracts

Introduction: Diabetic ketoacidosis (DKA) is a potentially fatal hyperglycemic emergency primarily associated with type 1 diabetes mellitus (T1D). The association between DKA and severe hypertriglyceridemia has already been previously discussed with a prevalence ranging between 7.1%-25%, with pancreatitis present in the majority of cases. Epidemiological data in the pediatric age are scarce and not well established. Its etiology is not yet fully known. The &qu...

Introduction: Mitotane is an adrenal-specific agent available for treatment of residual adrenocortical carcinoma (ACC) after surgery, due to a specific, direct effect on adrenal cell mitochondria impairing adrenal steroidogenesis being associated with increased SHBG and modulates their disposal for target cell. We report a rare case of uterine bleeding during mitotane treatment in a girl with recurrent ACC.Case report: A 2.6 year-old girl was diagnosed w...

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

Background: Neurofibromatosis type 1 (NF1) caused by loss of function mutation in the NF1 gene; leads to the hyperactivation of RAS and its downstream mediators and contributes to tumour formation. The main manifestations of NF1 are café au lait macule, axillary and/or inguinal freckling. Neurofibroma plexiform is specific for NF1 and identified on the face and trunk. Urogenital presentation is infrequent in the penis. Identification of this lesion is essential because it...

Introduction: Pituitary stalk thickening (PST) is a rare condition in pediatric patients. As there are few studies published in pediatric population, the definition has been difficult to establish. The etiologies involved in PST can be divided in neoplastic, congenital, inflammatory/infectious or autoimmune diseases. In children the most frequent causes are neoplastic, followed by congenital lesions. The inflammatory/infectious and autoimmune diseases are rare...

Background: CNS tumours are the most frequent solid tumours in children. In pediatric gliomas, IGF1R nuclear localization was significantly associated with both high grade tumours and increased risk of death and contributed to the aggressive phenotype of glioblastoma by increasing motility and metabolism of tumour cells rather than increasing its proliferation. For children chemotherapy after surgical resection is the mainstay of therapy. However, the best reg...

Background: In a recent report we have identified multinodular goiter (MNG) as a condition with an increased risk for thyroid malignancy in children and adolescents.Objective and hypotheses: To report the prevalence and characterization of a prospectively and uniformly followed cohort of pediatric patients with MNG and to retrospectively analyze differences between benign and malignant MNG before surgery in order to identify malignancy predictors.<p ...

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

Introduction: Higher evening cortisol level has been previously described in very preterm infants, possibly reflecting increased Hypothalamic-Pituitary-Adrenal Axis (HPA) tone or alterations in HPA regulation throughout the day. These relatively subtle differences in HPA axis function in preterm compared to full-term children may become meaningful in terms of metabolic risk later in life if sustained over time. Still, only a few studies have investigated wheth...

Familial Male-limited Precocious Puberty is a rare form of gonadotropin-independent precocious puberty. It is inherited in an autosomal dominant manner and it is caused by mutation in the LH/chorionic gonadotropin receptor (LHCGR) that promotes the production of cAMP without the hormone ligand, causing increased androgen production that determines the onset of puberty. The prevalence reported is less than 1/ 1 000 000. As there are few cases reported in the literature, informa...