Endocrine Abstracts

Introduction: Immunotherapy has become standard treatment for an increasingly wide range of cancers. Checkpoint inhibitors (ICT; CTLA4, PD1 & PD-L-1) can cause endocrine toxicity, principally affecting the pituitary and thyroid glands. We have studied the clinical management and outcome of patients with endocrine adverse effects over 5 years at our cancer centre.Methods: All patients treated with ICT agents between 1 Jan 2014 to 31 Jan 2019 were incl...

Introduction: Immune checkpoint therapies are novel cancer agents, which have been associated with the development of endocrine toxicities. ESMO and SfE endorsed management guidelines have been helpful for the early recognition of these toxicities, but in clinical practice, having early access to specialist endocrine advice improves the decision making and effective use of these agents when toxicities occur. In response to need we developed an easily accessible interdisciplina...

Phaeochromocytomas and paragangliomas account for about 0.1% of cases of persistent hypertension. Only 50% of these are being diagnosed as symptoms are often paroxysmal.We report a retrospective data analysis on 16 random patients (age 24–71 years, mean 51) diagnosed and treated for phaeochromocytoma and paraganglioma in our centre over the past 20 years. Symptom duration was 6 weeks to 15 years with female preponderance 2:1 (69 vs 31% in males). Sy...

Background: Pituitary surgery is the initial treatment for the majority of patients with acromegaly. The UK acromegaly register data (UK-AR-2) suggests that surgical remission rates vary widely, with a marked improvement since 2000. The aim of this study was to assess the outcomes of first TSS for acromegaly in our centre over the past 5 years.Methods: We retrospectively analysed data for all acromegaly patients who underwent first TSS between 2007-2011....

Primary hyperaldosteronism usually results from an aldosterone-secreting adenoma of the adrenal cortex (Conn’s adenoma) or bilateral adrenal hyperplasia. Identification of the anatomical adrenal lesion causing hyperaldosteronism typically involves CT or MR scanning, with lateralisation of aldosterone production confirmed by adrenal vein sampling (AVS). The latter is a technically difficult and invasive procedure, but current non-invasive alternatives (e.g. radiolabelled i...

Background: Pleuro-pulmonary inflammatory fibrotic syndrome is a rare but recognised complication of dopamine agonist (DA) therapy in Parkinson’s disease. Here, we describe a case of asymptomatic pulmonary fibrosis, presumed secondary to DA therapy, in a patient treated with cabergoline for an invasive macroprolactinoma.Case report: A 47-year-old previously fit man was admitted as an emergency with a 3 days history of headache followed by collapse. ...

Introduction: Latent Autoimmune Diabetes of Adult (LADA) is a form of adult onset type1diabetes. It usually presents after age 30 years and has many demonstrable antibodies, Glutamic Acid Decarboxylase (GAD) being one of them. Detection of LADA has definite prognostic and treatment implications as 10% of adults with diabetes in UKPDS had LADA and majority of them required insulin within 6 years of diagnosis. Screening by using GAD antibody has been said to be a superior method...

Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP). GNAS variants were recently described in 1% of patients, not known to have PHP, in the UK Genetics of Obesity cohort, resulting in reduced MC4R signalling and variable effects on PTH-R and GHRH-R signalling.Methods: NGS (Cambridge Obesity Gene Panel) and in vitro functiona...

Introduction: Stuve–Wiedemann Syndrome (SWS) is a rare genetic condition with autosomal recessive inheritance characterized by the association of typical facial appearances, skeletal manifestations including bowed legs and dysautonomia. Only two patients with long survival have been reported in 2001. We report three children whose periodic clinical evolution could be observed in our hospital until the age of 9 years. We report a case of SWS with associate...

Case history: We present a 76-year-old woman with cyclical ACTH-dependent Cushing’s syndrome since 2002. She has two-yearly relapses with proximal myopathy, candidiasis, facial swelling and hypokalaemia that have been biochemically confirmed with Overnight and Low Dose Dexamethasone Suppression tests. Although her initial cycles were brief and uncomplicated, her most recent episodes led to prolonged hospital admissions. During her last admission, she became septic complic...