ESPE Abstracts

Background: Long-term glucocorticoid therapy with Prednisolone or Deflazacort has improved outcomes in patients with Duchenne Muscular Dystrophy (DMD), however recommended dosages suppress the hypothalamic-pituitary-adrenal axis, leading to adrenal insufficiency. All boys prescribed glucocorticoid therapy should be assumed to have adrenal suppression, and therefore at risk of adrenal crisis during illness or stress (eg. surgery, bisphosphonate infusions). The ...

Background: The COVID-19 crisis required paediatric endocrinologists to rapidly adopt telehealth into their clinical practice. Accurate auxology is a cornerstone of paediatric endocrinology care and is needed to monitor growth and guide medication changes. Remote consultations depend upon parent-reported measurements. However, home height measurements are often inaccurate.Aim: We designed a quality improvement study with...

Expansion of the skull vault to accommodate the growing brain is driven primarily by growth at cranial sutures. These are fibrous joints between the flat bones of the skull that translate growth pressure from the brain into a balanced proliferation and differentiation of cells of the osteoblast lineage. This process is sensitive to environmental and genetic insults and premature fusion of one or more sutures, termed craniosynostosis is a common (~1 in 2000), and serious cranio...

Background: The introduction of second generation antipsychotic (SGA) drugs for the treatment of bipolar disorders has been associated with metabolic adverse reactions. Many studies cite significant weight gain as a common side effect, which is often attributed to dysfunction of glucose homeostasis and the development of dyslipidaemia. This in turn may trigger the early pathogenesis observed for example in type-2-diabetes. Factors controlling energy metabolism are largely cons...

Background: Adrenal Insufficiency (AI) is a heterogeneous diagnosis comprising multiple central and peripheral causes. The unifying feature is the requirement for glucocorticoid replacement and subsequent risk of life-threatening Adrenal Crisis (AC) and Adrenal Death (AD). Very few studies have investigated rates of AD in children. Multiple studies have reported symptoms of children with AC as interpreted by medical staff but no studies have looked at parental...

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

Introduction: Congenital hyperinsulinism (CHI) is a disorder of pancreatic beta-cells characterized by inappropriate secretion of insulin leading to hyperinsulinemic hypoglycemia. Insulin secretion is a complex, genetically regulated process. Mutations in several genes known to regulate insulin secretion result in CHI. Recently, non-coding mutations in HK1, which cause the aberrant expression of hexokinase 1 (HK1) in beta cells, have been reported as a novel c...

Background: We have previously shown in a randomised controlled trial that moderate-intensity exercise over the last 20 weeks of gestation in healthy nulliparous women led to a birth weight reduction of approximately 250 g.Objective and hypotheses: We aimed to assess the long-term effects of exercise in pregnancy on anthropometry and body composition in mothers and offspring 7 years after the intervention. We hypothesized that women who exercised in preg...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...