ESPE Abstracts

Introduction: Glucocorticoid replacement has been the main focus of research in congenital adrenal hyperplasia (CAH). However, few studies have focused on mineralocorticoid replacement.Aim: Evaluation of mineralocorticoid replacement in a large cohort (n=124) with CAH recruited retrospectively over a 10-year (2010-2020) period.Methods: We recruited 124patients (71female, 5...

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Objective and hypotheses: We report a kindred with three siblings born to unrelated parents manifesting with two different forms...

Background & Objective: Recombinant human insulin like growth factor 1 (rhIGF1) therapy is the only treatment available for primary IGF1 deficiency and related disorders. However, it’s efficacy in promoting growth is controversial and needs cautious monitoring for adverse effects. The aim of this study was to determine the long-term efficacy and safety profile of rhIGF1 therapy.Methods: Retrospective review of a...

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...