ESPE Abstracts

Introduction: Type 1 diabetes has a major impact on not only the person diagnosed, but also their families/carers. Diabetes control is affected by many factors. Our diabetes patient cohort has a very high level of social burden which we feel impacts significantly on the management of their diabetes.Methods: We performed a retrospective analysis of all young people supported by the Evelina London Children’s Hospital diabetes team in 2017 looking at a...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...

Objectives: Mutations in PTPN11 are known to be associated with Noonan syndrome (NS), accounting for approximately 50% of cases. Data from a non-interventional and phase 3 study of Norditropin (somatropin; Novo Nordisk A/S, Denmark) were used to assess the impact of PTPN11 mutation status on growth outcomes in children with NS receiving growth hormone therapy (GHT).Methods: The ANSWER (NCT01009905) prog...

Introduction: Over-production of androgens is linked to prostate cancer (PCa) in men and polycystic ovary syndrome (PCOS) in women. CYP17A1 produces dehydroepiandrosterone (DHEA), the precursor for androgens, via its 17,20 lyase activity. CYP17A1 lyase activity is regulated by the amount of P450 reductase for electron transfer; the presence of cytochrome b5; and protein phosphorylation. High androgen levels were linked to the phosphorylation of CYP17A1 protein...

Background: Thyroid hormone disrupting chemicals (THDCs) which are present in the environment, food and everyday consumer products, interfere with thyroid hormone signaling, possibly by interacting with thyroid hormone receptors (THRs). This alters the thyroid hormone homeostasis and affects various functions regulated by the thyroid hormone e.g. macronutrient metabolism, cardiovascular function, and normal brain development. Therefore, there is a necessity for detection and m...

Background: Mutations in GH1 gene cause isolated growth hormone deficiency. Several disease-causing mutations from patients with IGHD have been reported. These mutations have been shown to (a) produce shorter isoforms of GH that does not bind to growth hormone receptor, (b) cause diminished secretion of GH or (c) result in misfolded GH protein. Large sequencing studies from the non-clinical population show several hundred genetic variations in GH1 gene. Role of common polymorp...

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

Previous studies have shown that poor adherence to recombinant human growth hormone (r-hGH; Saizen®) therapy is associated with decreased efficacy outcomes and increased healthcare costs. Easypod™ is the only electronic injection device that enables continuous monitoring of adherence to treatment. Early recognition of non-adherence is essential in the management of long-term outcomes of r-hGH therapy. This analysis aimed to evaluate adherence to r-hGH therapy adminis...

Background: Increased prevalence of autoimmune thyroid disease (ATD) in patients with type 1 diabetes mellitus (T1DM) has been extensively described. Since 1996, screening for thyroid disease has been implemented in children and adolescents with T1DM and is performed at least annually.Objective and hypotheses: The aim of this study is to determine the natural history and incidence of ATD in T1DM pediatric patients and the relationship between positive an...

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in childhood and adolescence. Poor metabolic control is associated with numerous and onerous consequences. HbA1c levels are important in the assessment and monitoring of metabolic control in T1DM. Therefore, it is essential to know the causes of its variability.Objective and hypotheses: Determine the impact of age and time of disease in the value of HbA1c in children...