ESPE Abstracts

Background: Fetuin A is a hepatokine known as a natural inhibitor of the insulin receptor tyrosine kinase and is associated with insulin resistance and nonalcoholic fatty liver disease (NAFLD). Studies on adults provided conflicting results regarding the link between fetuin A and the severity of liver damage in NAFLD. Data on children are limited.Objective: To investigate the relationship between fetuin A, metabolic parameters, and NAFLD in obese childre...

Background: Recent studies have suggested a role of IGF1 as a candidate prognostic marker for cardiometabolic complications of obesity.Objective: To investigate the relationship between IGF1 serum levels and both biochemical and metabolic parameters as well as body composition in a cohort of obese children.Methods: obese subjects (130F/157M), aged 11.2±2.7 years, were studied. Anthropometry, biochemical and metabolic parameter...

Background: Endoplasmic reticulum (ER) is the site where proteins are folded. Perturbation of ER homeostasis activates a set of ER-to-nucleus signaling reactions known as the unfolded protein response (UPR). Metabolic stress causes UPR activation which contributes to the development of insulin resistance and metabolic syndrome. As UPR can be activated by nutrient and oxygen starvation, we postulated that intrauterine growth restriction may trigger UPR signaling and thereby con...

Background: Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance. PHA type 1 (PHA1) is characterized by neonatal salt loss, failure to thrive, dehydration and circulatory shock. It includes two forms: renal (autosomal dominant), due to mutations in mineralocorticoid receptor coding gene NR3C2, and systemic (autosomal recessive), due to mutations in subunit genes of the epithelial sodium channel (ENaC). ENaC is constituted of three subu...

Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by non-autoimmune diabetes mellitus and progressive optic atrophy. WS includes other possible disorders, such as diabetes insipidus, sensorineural deafness, genitourinary tract problems, neurological or psychiatric disorders and others.Case presentation: A 12-years-old boy presented with glicosuria and shortly developed insulin-dependent diabetes mellitus...

Hypothyroid patients post-thyroidectomy require 1.6-1.8 mg/kg/die of Levothyroxine (L-T4). A persistent TSH level above the upper limit despite a daily dose >1.9 mg/kg/die is defined as “refractory” hypothyroidism in adults. Malabsorption and “pseudo-malabsorption” need to be investigated in case of therapeutic failure. L-T4 absorption test (LT4AT) is useful in distinguishing these two conditions but it has only been described in adult age. We ...

Introduction: PMM2-CDG is the most common congenital disorder of glycosylation (CDG). Since glycoproteins are involved in every endocrine axis, PMM2-CDG patients have a high risk of developing endocrinopathies.Case report: We describe two 12 years-old female PMM2-CDG patients with severe short stature and no clinical sign of puberty. One patient showed low serum levels of insulin-like growth factor-1 (IGF-1) and IGF bind...

A 17-year-old girl comes to our attention for a second opinion due to reduced bone mineralization. She has a family history of osteogenesis imperfecta: her mother and younger sister have a COL1A1 mutation. The girl never had any fractures, but considering the familiarity it was carried out a DEXA, showing a Z-score of -1.9 SDS at the femoral level and -2 SDS at the lumbar level; no fractures visible in the spine X-ray. The genetic analysis of COL1A1 was carried out, which came...

Background: Data regarding epidemiology and management of Diabetic Ketoacidosis (DKA) in Italian children with T1D at disease onset are lacking.Method: From 1/1/2012 to 31/12/2013 a survey on DKA was conducted in all paediatric Centres belonging to the Italian Society for Pediatric Diabetology and Endocrinology. DKA was defined according to the ISPAD criteria. The following data were collected: treatment according ISPAD protocol yes or not, type of rehyd...

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...