ESPE Abstracts

Background: The congenital disorders of glycosylation (CDG) are a group of genetic diseases owed to defects in the biosynthesis of glycoproteins and other glycoconjugates. Phosphoglucomutase type 1(PGM1) deficiency is classified among the CDG. Varied range of clinical manifestations recently described includes hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycaemia, myopathy, dilated cardiomyopathy, and cardiac arrest,...

Background: A growing list of genes has been implicated in the pathogenesis of congenital hypogonadotropic hypogonadism (HH).Objective and hypotheses: To identify the cause of a unique syndromic HH in a consanguineous Bedouin family.Method: Medical records of the patients were reviewed. Genotyping of the brothers and their parents and whole exome sequencing (WES) were performed.Results: Two brothers presented...

Background: The blood-brain barrier (BBB) is a multicellular neurovascular unit (NVU) that allows selective passage of necessary molecules into the central nervous system (CNS) while limiting the entry of neurotoxins and most drugs. A cross talk with pericytes and neural cells mediates the acquisition of tight junctions (TJs) in brain microvascular endothelial cells (BMECs), which limit the paracellular passage of solutes, thereby regulating CNS homeostasis. H...

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...

Objective: The overarching hypothesis explored in this research was discerning the relations between the neuro-cognitive accomplishments of adolescents with T1D patients and healthy siblings of similar age, according to the transient glucose excursions, and the quantitative parameters of white matter in specific pathways according to glycaemic control.Research Design and Methods: A case-control study included 12-18 years...

Background: Insulin degludec/insulin aspart (IDegAsp) is the first soluble co-formulation that combines two insulin analogues.Aims and objectives: To assess the efficacy and safety of IDegAsp administered once-daily (OD) plus meal-time IAsp for remaining meals in controlling glycaemia as assessed by change in HbA1c from baseline in a paediatric population.Methods: A 16-week, 1:1, open-label, parallel group, randomised, t...

Background: Concern remains regarding the potential influence of growth hormone (GH) treatment on neoplasia because of the general growth-inducing effect of GH and associations between high serum IGF1 concentrations and certain cancers in adulthood. Many studies that evaluated risk for primary cancer in GH-treated patients without previous malignancy found no increased rates of primary neoplasia. A higher risk for colorectal cancer was observed in a single-country cohort treat...

Background: Thrombocyte volume parameters such as mean thrombocyte volume (MPV) and PDW (thrombocyte distribution volume) are parameters used in evaluation of thrombocyte size which have hemostatic importance. The increased thrombocyte volume is a marker of thrombocyte activation. The thrombocyte activity is important in pathophysiology of diseases with a tendency of thrombosis and inflammation. In adult studies it has been reported that MPV increases in thrombotic diseases su...

Background: GH treatment in children born small for gestational age (SGA) has both short- and long-term growth-promoting effects and is approved in Europe and the USA (recommended dosages 0.25–0.47 mg/kg per week).Objective and hypotheses: To assess final height (FH) and safety outcomes in SGA patients receiving GH treatment in routine clinical practice using data from GeNeSIS.Method: 1208 GH-treated SGA patients were enrolled...

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...