Endocrine Abstracts

Introduction: The successful implementation of clinical genetic testing relies on accurate variant interpretation, as misclassification can result in significant harm to the patient and wider family. Missense single nucleotide variants (SNVs) pose a particular challenge, with current interpretation methods often unable to differentiate pathogenic variants from rare neutral variants, resulting in high numbers of variants of uncertain significance (VUS), and diagnostic uncertain...

Objective: Agranulocytosis is a rare but severe side effect of thionamide use in patients with hyperthyroidism. Treatment involves cessation of offending drug, treatment of sepsis, and the use of haematopoietic growth factors. Most patients recover uneventfully, and rarely present with further complications after treatment of the acute episode. We present a case report of suppurative lymphadenitis after treatment with granulocyte-stimulating factor (GCSF) and recovery from car...

We describe a case of a male who presented to a rheumatologist with hypercalceamia at the age of 22 in 1995. Investigations were incomplete and he was lost to follow up. He was referred to a general surgeon in 2002 as another blood test had showed hypercalcaemia of 2.8 mmol/l (2.2–2.6), parathyroid hormone 9.5 pmol/l (1.6–6.9). A spot urine calcium/creatinine excretion ratio was 0.014. It was felt he probably had primary hyperparathyroidism and he was managed conserv...

Background: A feasibility trial was conducted to determine the potential for telemedicine to replace alternate diabetes review appointments in the care of those with gestational diabetes (GDM). One of the aims of this study was to access concordance of clinical decision making between diabetes clinic visits and telemedicine review sessions.Methods: 50 women with GDM were randomised to usual care (n=26) or usual care plus telemedicine (n=24). Telemedicine...

Prostate cancer is the most common male cancer in the UK. Currently there is a lack of pre-clinical models to predict patient’s response to treatment for prostate cancer. Identifying which patients will respond best to treatment avoids exposing patients to treatment side effects unnecessarily. Primary cell culture provides a translational model to predict individual patient’s response to drug treatments. In this study, we develop a technique for isolation, propagatio...

Background: There has been conflicting evidence on the use of strict dietary iodine restriction prior to Radioiodine (RAI) administration for the management of hyperthyroidism and varying level of restrictions have been used. More recently the Medical Physics team in our institute implemented strict dietary iodine restrictions for 2 weeks pre-RAI administration. Significant inconvenience was reported by patients, which in some instances led to their reluctance to receive a sec...

Background: Acromegaly treatment options include transsphenoidal surgery (TSS), medical management with somatostatin analogues (SSAs), growth hormone (GH) receptor antagonists and dopamine agonists, radiotherapy or a combination of these, depending on symptom nature and severity, tumour size, age and health status. In 2014 the Endocrine Society published guidelines for management of acromegaly.Methods: To describe current UK practice following guideline ...

Background: Corticosteroid-binding globulin (CBG) plays a critical role in regulating glucocorticoid bioavailability. During inflammation, plasma CBG behaves as an acute phase “negative” protein due to the down-regulation of hepatic SerpinA6 (Cbg) expression and proteolytic cleavage of CBG. CBG contains a protease-cleavage domain (RCL) that promotes the release of CBG-bound steroids at sites of inflammation. Using an established adjuvant induced art...

Introduction: Neonatal Grave’s disease is rare, affecting one in 25 000 neonates, and results from transplacental passage of TSH receptor antibodies (TSHR-Ab). Whilst hyperthyroidism occurs in <5% of babies born to mothers with active Grave’s disease; those born to mothers who were previously treated may still be affected. Neonatal Grave’s disease is usually self-limiting, however, complications include craniosynostosis, growth retardation, hyperactivity, de...

Introduction: There is a rare but well documented association between thymic hyperplasia and Graves’ disease particularly in young patients. It is important to recognise this as patients presenting with an anterior mediastinal mass will often undergo extensive investigations to exclude an underlying lymphoproliferative disorder.Case study: A 19-year-old female with symptomatic Graves’ thyrotoxicosis (TSH <0.01 mU/l; FT4 46.8 pmol...