ESPE Abstracts

Background: Despite the metabolic syndrome in pediatrics is a well recognized entity, there is no unanimous consensus on exact value of MS to predict long-term cardiovascular risk. Hepatic Steatosis (HS) is another emerging condition associated to pediatric obesity.Objective and hypotheses: To evaluate the prevalence of MS in a large pediatric obese population, assess the relationship between MS and HS, and evaluating the possible role of HS in defining ...

Introduction: Endocan is a soluble dermatan sulfate PG (50kDa), composed by 165 amino acid core protein, that is expressed and secreted by endothelial cells of dermal microvasculature, coronary, pulmonary arteries, and capillaries from adipose tissue. It plays an important role in the pathogenesis of vascular disorders, inflammation, and neoangiogenesis. Endocan biosynthesis is upregulated by inflammatory cytokines like TNF-α,IL-1, TGF-β1, and by pro...

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

Background: Type 1 Diabetes (T1D) is a chronic disease resulting from autoimmune destruction of insulin-secreting pancreatic β cells. Viruses are known to play a role in the pathogenesis of T1D. There is no consistent evidence that SARS-CoV-2 induces T1D in children or adults. Nevertheless, evidence suggests that the SARS-CoV-2 affects β cell function, suggesting a role for the virus in the pathogenesis of the disease. It is thus plausible that the e...

Introduction: Type 1 diabetes (T1D) is one of the common chronic diseases of childhood. T1D management is affected both by physiological and behavioral factors. Some patients and their parents choose to conceal the disease from others. Concealment of disease status is not unique for T1D, and has been shown to adversely affect clinical outcomes, social support and well-being of patients with other chronic conditions. There is limited data on the effects of concealment of T1D in...

Background: OPKO Biologics is developing MOD-4023, a long-acting growth hormone (GH), intended for weekly dosing for the treatment of idiopathic GH deficiency in children. At ESPE2015, we presented pharmacokinetic (PK) and pharmacodynamic (PD, based on IGF-1) models for weekly MOD-4023 administration in children aged 3–11 years. These models confirm that IGF-1 (and IGF-1 SDS) varies during the dosing interval. One critical clinical and research issue is when to optimally ...

Background: Children at type 1 diabetes (T1DM) diagnosis can develop ketoacidosis (DKA), a life-threatening condition, which is most frequently associated with the onset of diabetes in children aged <5 years.Aims and objectives: We studied the prevalence of DKA at T1DM diagnosis and the frequency of partial remission (PR) in children from Wielkopolska province, Poland.Method: The cohort comprised 735 children aged 0–18 yea...

Background: OPKO Biologics is developing MOD-4023, a long-acting growth hormone (GH), intended for weekly dosing for the treatment of idiopathic GH deficiency in children. At ESPE2015, we presented pharmacokinetic (PK) and pharmacodynamic (PD, based on IGF-1) models for weekly MOD-4023 administration in children aged 3–11 years. Those models were based on data collected during the ‘PKPD period’ (the second steady state dose of MOD-4023) and monthly values during...

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...