ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a transient, recurrent or persistent course. Transient CHI (tCHI) is considered to be caused by non-genetic risk factors e.g. birth asphyxia and intrauterine growth restriction (IUGR), while persistent hyperinsulinism is known to be caused by mutations in at least nine genes: ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A and UCP2.Objective and hy...

Background: We previously reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure, immunodeficiency and chromosomal fragility.Objective and Hypotheses: To report the full endocrine phenotype of 14 patients with MCM4 mutations.Method: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal f...

Background: Diabetes mellitus is a late complication in glycogen storage disease type 1 (GSD1). Patients with GSD1 who are poorly controlled have prolonged periods of low glucose levels. As they grow older they become tolerant to these hypoglycaemic episodes, and may be mildly symptomatic or asymptomatic even with low glucose levels. This results in adaptive mechanisms, mediated through down regulation of glucose receptor on the β-cell membrane (GLUT2) to reduce insulin s...

Background: Anorexia nervosa is usually associated with lower levels of thyroid hormones especially suppressed TSH and T3 with normal T4 levels due to the effects of starvation on metabolism. We present two cases where the underlying eating disorder masked the thyroid dysfunction.Patient 1: 15-year-old girl with anorexia nervosa and BMI of 15.6 was noted to have suppressed TSH<0.1 mU/l, high normal T3–7.0 pmol/l ...

Background: Mutations in the side chain cleavage enzyme, (CYP11A1) cause congenital adrenal insufficiency, with complete or partial 46XY sex reversal. The disorder manifests with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system.Objective and hypotheses: To obtain a genetic diagnosis in six patients with adrenal insufficiency of unknown aetiology. Patients 1 and 2 are sisters with ACTH resistance, having...

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

Background: The effects of metabolic memory highlight the importance of good glycaemic control following diagnosis of type 1 diabetes (T1D). There is relative insulin resistance at diagnosis, particularly in the presence of ketonaemia. Local prescribing guidelines reflect this with higher insulin starting doses with ketonaemia.Objective and hypotheses: Current insulin dosing guidance for children with newly diagnosed T1D appeared insufficient to achieve ...

Introduction: GLP-1 receptor agonists (GLP1A) have been shown to be effective in achieving weight loss in adolescents with obesity and improve glycaemic control in type 2 diabetes mellitus (T2DM). We aimed to investigate the glycaemic alterations and satiety levels in patients treated with the GLP1A, liraglutide. To the best of our knowledge, this is the first study of its kind.Methods: In total, 22 patients managed in a...

Introduction: Childhood obesity is a growing concern worldwide, and it has been linked to several nutritional and genetic factors. In some patients, monogenic causes can be identified, which are due to single gene mutations in specific pathways related to appetite regulation. One of the most common monogenic causes of obesity is heterozygous mutations in Melanocortin 4 receptor (MC4R), with a prevalence ranging from 2% to 6% in juvenile-onset obesity. We repor...

Introduction: The Royal College of Paediatrics and Child Health state that adolescents with significant obesity require access to evidence-based weight management services (WMS). Due to the known benefits of exercise and physical activity (PA) on physiological and psychological outcomes increasing exercise and PA should form a cornerstone of any WMS for adolescents living with obesity. However, supervised exercise interventions face challenges within a clinica...