ESPE Abstracts

Pediatric diabetes management extends beyond glycemic control. A gap between guidelines and actual care exists. Standardized performance measures represent a key strategy to improve quality of care. In Italy, a non-profit initiative of continuous monitoring and quality improvement of diabetes care is in place since 2018, promoted by the ISPEDCARD association and involving the Society for Pediatric Endocrinology and diabetology (ISPED). Aim of the present work is to report the ...

Background: An association between type 1 diabetes mellitus (T1DM) and idiopathic generalized epilepsy is reported. Some authors suggest an autoimmune mechanism mediated by antibodies to glutamic-acid-decarboxylase (GAD), that is an enzyme involved in the synthesis of the neurotransmitter GABA. Dravet syndrome (DS) is a rare, severe epilepsy disorder characterized by febrile hemiclonic seizures or generalized status epilepticus starting at 6 months of age. In classical DS, a d...

Background: CDC (Centers for Disease Control and Prevention) reported an increased risk of newly diagnosed diabetes over 30 days after SARS-CoV-2 infection among persons aged < 18 years. Similarly, the results from the DPV Registry demonstrated a significant increase in the incidence of pediatric Type 1 Diabetes during COVID-19 pandemic. The underlying mechanisms are not yet elucidated.Aim: To investigate the incidenc...

Background: Type 1 diabetes (T1D) is a chronic disease characterized by autoimmune destruction of pancreatic beta-cells. Dysregulated miRNA levels have been described in T1D patients, though results are inconclusive.Objective and Hypotheses: The aim of this study was to assess the circulating profile of different miRNAs in children at diagnosis of T1D.Method: 27 children with T1D o...

Background: Young children affected by Type 1 Diabetes (T1D) are prone to glucose fluctuations and hardly reach a stable glycometabolic control, especially when treated with a Multiple Daily Insulin Injections (MDI) scheme. The recent Real-Time Continuous Glucose Monitoring (RT-CGM) System, Dexcom G5, the only available device registered for non-adjunctive insulin intervention, potentially facilitates a better management of the disease. Evidence regarding CGM effectiveness amo...

Background: In Italy monogenic forms of hyperglycemia account for more than 6% of cases referred to pediatric diabetes clinics. In January 2019 we started a Monogenic Diabetes Clinic (MDC) with the three main aims: a) implementing a standardized pathway towards genetic testing, 2) ease the revision of complex cases, 3) implement standardized therapies for monogenic diabetes mellitus (MDM) subtypes.Methods: Type 1 diabete...

Background: Inherited epidermolysis bullosa (EB) comprises a cluster of genetic disorders characterized by blistering of skin and mucosae following minimal mechanical traumas. Severely affected individuals have high risk of extracutaneous complications, including chronic undernourishment and low bone mass.Objective and hypotheses: The aims of this study were to assess the areal bone mineral density (aBMD) and vitamin D status of children and adolescents ...

Introduction: The association between ATD and AIG is very poorly characterized in pediatric age. We review the prevalence of the anti-gastric parietal cells antibodies (APCA) in young patients with ATD and we evaluated the development of AIG during follow-up, in order to define the usefulness of these markers for AIG screening in these patients.Patients and Methods: We evaluated 220 children and adolescents (11.28 ±...

Background: Childhood cancer survivors (CCS) are at increased risk of developing secondary malignant neoplasms (SMN). Radiotherapy is one of the main risk factors, and secondary thyroid cancers (STC) are likely to occur among irradiated CCS.Objective and hypotheses: To evaluate frequency, characteristics, and of STC in the cohort of CCS treated and in follow-up at the Istituto Giannina Gaslini.Method: Survivors treated between 1975...

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...