Endocrine Abstracts

Introduction: It is important to ensure the information shared on social media is up to date to current clinical practice, reliable and appropriate to the target audience. YouTube is the most popular social media platform for video-based medical information worldwide. You and Your Hormones is a UK-based website endorsed by Society for Endocrinology hosting videos on various medical conditions aimed at the public. CoMICs (Concise Medical Information Cines) are short videos prov...

Background: Atypical congenital hyperinsulinism in infancy (CHI-A) represent patients who generally present symptoms of hypoglycaemia later in the neonatal period, are poorly responsive to medical intervention and have no known genetic cause of disease. Our objective was to compare the expression profiles of insulin and somatostatin in islets from patients with CHI-A, diffuse CHI (CHI-D) and age-matched control tissue.Methods and materials: CHI tissues w...

Background: In diffuse CHI (CHI-D) insulin release is uncontrolled due to mutations in the ABCC8/KCNJ11 genes. Increased rates of cell proliferation have also been reported, but the mechanisms responsible for this are unknown. We hypothesized that this may arise as a consequence of failure to terminate proliferation in the neonatal period. Here, we examined the proliferative index (PI) of islet cells in CHI-D patients and compared this with focal CHI (CHI-F) ...

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...

Objective: Succinate dehydrogenase B (SDHB) germline mutations are associated with predominantly extra-adrenal paraganglioma (PGLs) and high rates of metastatic disease. Bladder paragangliomas are a rare form of chromaffin cell tumours arising from the bladder wall. The aim of the study is to highlight the preponderance of bladder paragangliomas associated with SDHB gene mutations.Design: Retrospective case series.Patients: Five of...

Introduction: Adverse neurodevelopmental outcomes have been recognised in children with hypoglycaemia due to early and late presenting congenital hyperinsulinism (CHI). The Vineland Adaptive Behaviour Scales II (VABS-II) is a standardised measure used to assess parent reported adaptive behaviour. The test measures five domains; motor, communication, daily living skills (DLS), socialisation, and maladaptive behaviour. We have used VABS-II to identify specific neurodevelopmental...

Background: The focal type of Congenital Hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin over-secreting β-cells within a restricted area of the pancreas. Early identification and intervention of the focal lesion is critical in CHI management, preventing both acute and chronic complications.Objective: The purpose of this study is to review outcomes of treatment response in focal CHI.Design: Retr...

Introduction: Congenital hyperinsulinism (CHI) is an important cause of hypoglycaemia in infancy requiring intensive medical and surgical support. Carbohydrate requirement (CHO) represents a simple index of severity but does not predict the failure of medical treatment and hence the requirement for pancreatectomy.Aims: To design and validate a severity tool for use in early onset CHI patients.Methods: To design the Manchester CHI s...

Introduction: Neuroglycopaenia is recognised with abnormal neurology and development (Ab Dev) in 26–44% of children with persistent congenital hyperinsulinism (P-CHI). The prevalence of Ab Dev in spontaneously resolving CHI (R-CHI) is not known. We aimed to investigate Ab Dev in R-CHI and P-CHI children in a contemporary cohort.Methods: All children (n=67) were assessed for Ab Dev in the domains of speech, language, motor and vision, and cate...

Introduction: Pancreatectomy may be necessary to treat hypoglycaemia due to congenital hyperinsulinism (CHI) following failure of medical management. Post-operative complications including infection and persistent hypoglycaemia have been reported after pancreatectomy, but factors predictive of these have not been recognised.Aims: To investigate if early factors or the time to surgery predict risk of CHI surgical complications and hypoglycaemia in the 6 m...