ESPE Abstracts

Aim: To study the clinical profile of Neonatal Diabetes Mellitus (NDM) at our centreObjectives: 1. To study follow-up data on growth, glycemic control2. To review genetic analysisIntroduction: NDM is rare and occurs at a frequency of 1:1,00,000. There is scarce literature on follow up of these patients although genetic data is well established (1). Developing...

Background: Congenital Hyperinsulinism (CHI), a condition characterised by dysregulation of insulin secretion from the pancreatic beta cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycaemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI. Biallelic inactivating mutations (homozygous or compound heterozygous) in ABCC8 and KCNJ11 are know...

Background: Growth hormone deficiency (GHD) requires long-term daily injections with GH replacement therapy and is associated with considerable treatment burden by patients and caregivers. Somapacitan is a long-acting GH derivative that is being developed for once-weekly dosing in adults and children with GHD. A well-established protraction method, which is successfully in use to extend the half-life of insulin and glucagon-like peptide (GLP)-1, has been applied in developing ...

Introduction: The Short Synacthen Test (SST) is the most popular diagnostic investigation of adrenal insufficiency (AI) amongst adult and paediatric endocrinologists. AI can present insidiously and symptoms may be non-specific. The number of medical indications for glucocorticoids is growing and SST usage is correspondingly increasing. There is evidence that an early morning plasma cortisol (EMC) of below ~100–150 nmol/l is highly predictive of failing the SST and the cor...

Introduction: The Short Synacthen Test (SST) is the most popular diagnostic investigation of adrenal insufficiency (AI) worldwide. Symptoms of AI are frequently non-specific, often delaying diagnosis, however fortunately cases of adrenal crisis remain relatively rare. Diagnostic cut-offs for plasma cortisol on SST are controversial, made more complicated by modern assays and paediatric normative values extrapolated from adult data. Some advocate a division between biochemical ...

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

Introduction: Only 1.8% of thyroid malignancies occur during childhood, explaining very limited pediatric data. Most frequent in children are papillary thyroid carcinoma (PTC), occurring after exposure to radiation, and presenting as a thyroid nodule ± cervical lymph nodes. PTC may present as diffusely infiltrating disease of the thyroid with microcalcifications. We report an uncommon presentation of a PTC in a 7 year old boy.Case report: The boy wa...

Background: The effect of profound weight loss following obesity surgery on skeletal microarchitecture and strength in adolescents has not been studied. Obese children are at an increased risk of fracture and childhood obesity leads to reconfiguration of trabecular bone without augmenting bone strength.Objective and hypotheses: To examine the impact of weight loss following 6 months treatment with an intragastric balloon supported by a lifestyle interven...

Background: Fifteen years ago children born very preterm (<32 weeks of gestation) were reported to be insulin resistant. Neonatal intensive care has since improved considerably, but it is unclear whether this has affected long-term outcomes in those born preterm. Abnormalities in gut microbiome, which influence host metabolism, have been found in preterm newborns.Objective and hypotheses: We aimed to assess whether children born very preterm still ha...

Background: Hyperinsulinaemic hypoglycaemia (HH) is one of the common causes of hypoglycaemia in infants and children. It can cause severe brain injury in children if not treated promptly. Diazoxide is first-line treatment for HH. Glucagon infusion is used in the management of children with HH. However it is unclear what dose of glucagon should be used in children.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of intraven...