ESPE Abstracts

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in infancy. It is characterised by hypoketotic, hypofattyacidaemic and hyperinsulinaemic hypoglycaemia. The molecular basis of HH includes defects in pathways that regulate insulin release; to date, 12 genes have been associated with monogenic forms of HH (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1, PMM2). However, no genetic aetiology has been...

Background: The increasing incidence of obesity is a global public health challenge. Although energy imbalance is the major cause of obesity, evidence suggests that other risk factors such as exposure to endocrine-disrupting chemicals (EDCs) may contribute to the development of obesity. Early life exposure to obesogens may result in a higher risk of developing obesity. Among the chemicals suspected to have obesogenic effects, bisphenol A (BPA) and phthalates are under worldwid...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Exposure to endocrine disrupting chemicals (EDCs) during critical windows of development may play a role in this trend. Epidemiological and animal studies showed that exposure to phthalates and BPA could be associated with earlier puberty onset in girls.Objective: To investigate the association between the exposure to BPA, DEHP’s metabolites...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

Introduction: Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS) was first reported by our hospital in the UK. Vitamin D3(25(OH)D) has important roles in cardiac function, immunomodulation, and inflammation. It therefore may be an important biomarker for severity in PIMS-TS, however 25(OH)D status and treatment guidance in PIMS-TS are lacking. We report serum 25(OH)D levels on admission and associations wit...

Aim: There is a current lack of international guidelines for managing the endocrine aspects of Noonan syndrome (NS). A clinical practice survey was developed to identify knowledge gaps and differences in the management of patients with NS across Europe.Materials and Methods: A 60-question clinical practice survey was developed for clinical geneticists, paediatric endocrinologists and paediatric cardiologists directly involved in treating...

Introduction: The joint young adult diabetes (YAD) service at a specialist UK centre facilitates transition from paediatric to adult diabetes care for young people (YP) aged 16-25 years. Since 2018, quality improvement interventions have included focus groups with young people, joint paediatric and adult specialist nurse appointments and recruitment of a type 1 diabetes educator. We assess the impact of these interventions and changes imposed by the Covid-19 p...

Background: Paediatric obesity is a multifactorial disease characterized by an imbalance between energy intake and expenditure. In rare cases, obesity is caused by underlying medical disorders arising from disruptions in the leptin-melanocortin pathway, which regulates satiety and energy expenditure.Aim: To investigate resting energy expenditure (REE) in relation to body composition in children and adolescents with sever...

Background: Recurrent miscarriage (RM) is traditionally described as three or more consecutive pregnancy losses and remains a challenging condition, affecting 1-3% of couples trying to conceive. Although factors such as uterine abnormalities, maternal hypothyroidism and parental balanced translocations are associated with RM, in most situations the aetiology is unknown. The coexistence of RM and live births in many families suggests a potential association wit...