Endocrine Abstracts

Introduction: Thyroid carcinoma in childhood is rare, but may present with distant metastases. We present an unexpected diagnosis of follicular–variant papillary thyroid carcinoma (FVPTC) presenting to acute services with cyanosis.Case report: An 11-year old boy presented to A&E with a two month history of cyanosis, worse with exertion, but not associated with respiratory distress or limitation of exercise tolerance. He had peripheral cyanosis, ...

Introduction: NICE recommends specific annual health checks for children and young people (CYP) with diabetes aged 12 years and over to check for health of feet, kidneys, thyroid and eyes in addition to BP, BMI and HbA1c. Historically, we included annual review care processes into regular diabetes multi-disciplinary clinics. In 2017, our service was identified as negative outlier in the National Paediatric Diabetes Audit for completion of health care processes. In particular, ...

Background: The mechanisms responsible for inappropriate insulin release from β-cells in Congenital Hyperinsulinism in Infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects (due to mutations in ABCC8 or KCNJ11) is the same in diffuse- and focal disease.<p class="abst...

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...

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...