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: Early initiation of diazoxide (DZX) treatment in neonates with HH can prevent permanent hypoglycaemic brain injury. The DZX standard therapeutic dose (STD) is 5 mg/kg/day, and rarely associated with adverse events. There are limited data for the effectiveness and safety of DZX low-dose (<5mg/kg/day) for the treatment of HH neonates.Aim: To assess efficacy and safety of low-dose DZX in HH newborns.<p ...

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: Case reports have documented variable glycaemic response to the mTOR inhibitor Sirolimus in severe diazoxide+/−octreotide unresponsive forms of congenital hyperinsulinaemic hypoglycaemia (CHI). A high incidence of adverse effects has been reported in patients receiving this medication.Objective(s): To describe the efficacy and safety of Sirolimus use over a 5-year period in the largest cohort of CHI patients treated to date.<p class...

Introduction: Post-prandial hyperinsulinaemic hypoglycaemia (PPHH) is a recognised complication of various gastric surgeries in children, but rarely reported after oesophageal atresia repair. We report two children diagnosed with PPHH post-oesophageal surgery and the challenges of their management.Case 1: A 2-year-old boy diagnosed with oesophageal atresia at birth, was surgically repaired requiring six oesophageal dilatations the first year of life. At ...

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology is incompletely understood, with weight gain being attributed to hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various plasma appetite-regulating hormones in HyOb and ‘simple’ obesity (Ob) to improve our understanding of both forms of obesity and identify novel therap...

Background: The most frequent cause of familial growth hormone deficiency (GHD) is Type II autosomal dominant GHD (isolated GHD type II) due to several heterozygous GH1 mutations.Method: Genomic DNA from patients with familial GHD was enriched for the coding exons using hybrid capture technology and GH1 was sequenced using Next Generation Sequencing technology. Plasmids containing genes for WT and A34T GH1 were transfected into NCI HEK2...

Background: The iNCGS Registry monitored long-term safety and effectiveness of NutropinAq® (Somatropin injection) for paediatric growth disorders.Objective: To report year-1 effectiveness and safety data from the iNCGS registry (NCT00455728).Methods: Open-label, non-interventional, post-marketing surveillance study, in seven European countries from October 2005–December 2016. Measurements included height Standa...

Background: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology has been attributed to hyperphagia and hyperinsulinaemia. The wider roles of oxytocin (OXT) in regulating appetite and weight have recently emerged in animal and human studies, but there is no human evidence that hypo-oxytocinaemia contributes to weight gain.Hypothesis: Hypo-oxytocina...

Background: Septo-optic dysplasia (SOD) is an important cause of hypopituitarism, although less common than multiple pituitary hormone deficiency (MPHD). Children with optic nerve hypoplasia (ONH) are at risk of hormone and neurocognitive disturbances.Objective and Hypotheses: We describe clinical and neuroradiological findings of these three overlapping conditions, aiming to understand their pathophysiology.Method: Retrospective a...