ESPE Abstracts

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

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...