ESPE Abstracts

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

Background: Hyperinsulinaemic hypoglycaemia (HH) has two main histological subtypes: diffuse and focal. Diffuse HH are most commonly due to recessive or dominant ABCC8/KCNJ11 mutations. Focal HH results due to somatic loss of the maternal 11p allele involving the ABCC8 and KCNJ11 region in patients with paternally inherited ABCC8 or KCNJ11 mutation.Aim: To molecular characterise a novel non-stop KCNJ11</em...

Background: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (MODY).<p...

Background: Type 1 diabetes (T1D) has great psychological impact on adolescents and family’s lifestyle. It influences their perception of their quality of life (QOL), their metabolic control, and it may lead to future complications.Objectives: Identify how QOL affects on T1D adolescents and its relation to metabolic control.Methods: This is a retrospective study of 55 adolescents with T1D. Diabetes impacts patients’ conce...

Background: At a population level, increasing age/sex corrected BMI Z-score (BMI-Z) is associated with increased risk of complications. It is unclear whether severity of obesity is a good predictor of comorbidities within groups of obese children. This knowledge is required to inform clinical management and pathways of care.Objective and hypotheses: In obese youth, to identify whether 1 increasing BMI-Z+/− waist/height ratio(WHtR) is associated wit...

Background: Prader–Willi Syndrome (PWS) is a genetic disorder associated with hyperphagia and hyperghrelinemia with major morbidity due to obesity. The aetiology of hyperphagia is unknown, but presumed to be multifactorial, and, as ghrelin is orexigenic, high levels may contribute to weight issues in PWS. Currently, there is no effective medical treatment for hyperphagia in PWS, but targeting appetite could be beneficial. Exenatide (Byetta (synthetic exendin-4); AstraZene...

Background: Children with ISS have an array of causes that lead to short stature and/or poor growth velocity. Genetic causes of short stature, notably SHOX mutations, can be associated with subtle skeletal disproportion with shorter limbs, manifesting as increased sitting-to-standing height ratios or SDS.Objective and hypothesis: Children with ISS and skeletal disproportions have a diminished growth response to GH treatment compared to chi...

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...

Introduction: Obesity may increase the risk of cardiovascular disease (CVD) in patients with type 1 diabetes (T1DM). Risk of CVD in girls with T1DM is suggested to be higher than boys, however data pertaining to risk of CVD in boys are limited. The aim of this study is to determine the prevalence of obesity and risk factors of CVD in adolescents with T1DM as well as the impact of gender on these parameters.Methods: This ...

Background and Aims: Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. The disease may occur in isolation or can present as part of a syndrome. Routine screening of the known etiological genes (n = >20) identifies a disease-causing mutation in 40-50% of all cases. An accurate and timely genetic diagnosis is clinically important for all individuals as understanding the unde...