Endocrine Abstracts

A phaeochromocytoma is a catecholamine secreting tumour arising from the adrenal medulla and a paraganglioma refers to its extra adrenal counterpart, which can develop from sympathetic or parasympathetic tissue anywhere from the skull base to the pelvis. Presenting symptoms of these rare tumours are most commonly related to catecholamine excess, and include headache, palpitations, paroxysmal hypertension, anxiety, abdominal pain and excessive sweating. A phaeochromocytoma cris...

Phaeochromocytomas (PC) are tumours of the adrenal medulla and paragangliomas (PGL) refer to their extra-adrenal counterpart arising from sympathetic or parasympathetic tissue. Mutations in the citric acid cycle enzyme succinate dehydrogenase (SDH) predispose to PC/PGL. Clinical practice guidelines suggest that plasma metanephrine and normetanephrine levels measured in the supine position should be used in the first instance for biochemical diagnosis, and those with positive r...

Introduction: Patients with adrenal insufficiency (AI) lack endogenous cortisol and require oral hydrocortisone. In primary AI (PAI) endogenous aldosterone synthesis is also lost and patients require oral fludrocortisone. Important long-term issues include wearing MedicAlert jewellery (MAJ) and adequacy of steroid replacement including fludrocortisone, assessed by plasma–renin activity (PRA).We identified patients with AI attending our unit and aime...

The recently published Endocrine Society Clinical Practice guideline on phaeochomocytoma and paraganglioma (PPGL) recommends measuring plasma metanephrines (PMets) with patients in the supine position after an overnight fast and using appropriately defined reference intervals.1 Studies have shown higher diagnostic sensitivities using the latter pretesting criteria.2 However, this testing protocol is resource intensive and arguably impractical in routine c...

A 83-year-old lady presented to hospital with a one week history of malaise, dyspnoea and chest pain. Her admission bloods revealed a markedly elevated calcium of 4.16 mmol/l. Further investigations revealed a PTH of >5000 ng/l. Clinically the patient had poor dentition which had developed over the past 3 years and a history of episodic abdominal pain and constipation. For investigation of primary hyperparathyroidism, she had an ultrasound neck, which revealed an enlarged ...

Introduction: Genomic testing is expected to become a part of mainstream testing in the not-too-distant future, with clinicians ordering genetics tests in the same way routine endocrine tests are requested today. Knowledge on how and what test to request needs to be gathered by a wide range of physicians. To support this, the Genomics Education Programme of NHS England is developing a resource for all endocrinologists to use in clinic as part it’s Genomic...

Introduction: Carcinoid crisis is a life threatening endocrine emergency. It remains unclear whether there is an optimal dose of prophylactic somatostatin analogue (SSA) therapy in the peri-operative periodCase Study: A 62 year old lady with a new diagnosis of metastatic carcinoid disease was electively admitted for a right hemicolectomy for a well differentiated neuroendocrine tumour in the terminal ileum. A multi-disciplinary decision was made to offer...

Background: Existing biomarkers have limited ability to discriminate indolent non-functioning pituitary adenomas (NFPAs) from those with a propensity to recur following primary surgery. Radiomics, the extraction of quantitative data from medical imaging, is increasingly recognised as a tool to augment clinical decision making.Methods: 39 patients who underwent primary trans-sphenoidal surgery for an NFPA between January 2007 and April 2017, were enrolled...

Background: Sporadic non-functioning pituitary adenomas (NFPAs) are described as having quiet mutational landscapes. Genes with recurrent somatic alterations have not been identified by previous studies examining heterogeneous pituitary tumour populations. Existing biomarkers have limited ability to discriminate NFPAs with a predisposition for regrowth from those that will follow a more indolent course after primary surgery. We undertook somatic sequencing, in an enriched coho...

Section 1&2: Case history and investigations: We report the case of a 52-year-old man with recurrent immunodeficiency-related Burkitt’s lymphoma. 11 years following remission of his disease he presented with a firm lump in the parotid region. A biopsy showed histopathological evidence of a relapse. An 18F FDG PET was undertaken to determine the extent of the disease and response to R-DHAX chemotherapy. Areas of high uptake were identified in both sides of t...