ESPE Abstracts

Introduction: Legg-Calvé-Perthes disease is an idiopathic osteonecrosis of the femoral head with uncoupling of bone resorption and formation, presenting as unilateral involvement in most children. Symmetric involvement suggests other conditions: skeletal dysplasia, osteonecrotic entities including hypothyroidism, Gaucher's disease, glycogen storage defects, sickle cell anemia.Case presentation: We present a case...

Type 1 diabetes in childhood is a family project challenging all members 24 h/365 days a year. Parents and children have to perform a multitude of self-management tasks responding to changes in activity, food, emotional well-being and physiology. In addition parents have to combine their role as loving carer with role of the responsible ‘diabetologist’ of their child. Personalized structured education and psychosocial support for all family members are the keys to su...

Background: Kisspeptins, ligands of G protein-coupled receptor 54 (GPR54) encoded by the KiSS-1 gene, have recently emerged as key players of the gonadotropic axis. It was found that KiSS-1/GPR54 system plays an important role in the neuroendocrine control of gonadotropin secretion, brain sex differentiation, puberty onset and fertility. It is important to know if the kisspeptin serum level could be used as a diagnostic criterion to the stage of puberty or impairment of it in ...

Introduction: Empirical research studies suggest that continuous glucose monitoring systems (CGMS) are safe and could optimize neonatal hypoglycaemia management. However, they need to be tested within resource-limited, time-constrained clinical practice. CGMS was piloted in our Level 3 Neonatal Intensive Care Unit (NICU) in June 2017. Five key barriers to its effective implementation were identified: i) Lack of NICU staff confidence in device usage ii) Infant discomfort during...

Introduction: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in infancy caused by dysregulated insulin secretion. The management of severe hypoglycaemia often requires the administration of high dextrose-containing fluids through a central venous catheter (CVC). However, CVCs carry the risk of complications including thrombosis. We sought to determine the incidence of CVC-associated thrombosis in patients with CHI and examine associated risk factors...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...

Background: The term ‘disorder of sex development’ (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.Materials and methods: A retrospective analysis of the 75 medical cards of patients with DSD since 2000 up to 2017 year was done. The criterion for including patients to the database was ambiguous genitalia and/or a discrepancy between the chromosomal and gonadal/genital sex. At the tim...

Background: Generally, diabetic nephropathy onsets and progresses within 5–10 years after DM onset resulting in chronic kidney disease (CKD) causing death in every 4–5th patient with type I DM. Molecular-genetic studies of endogenous/genetic CKD risk factors are of high relevance in understanding of pathogenetic mechanisms underlying formation of nephrosclerosis, and in improvement of interventions.Objective and hypotheses: To assess renal func...