Endocrine Abstracts

The pharmaceutical industry provides challenging and rewarding career opportunities for physicians. Given that clinical drug development for cardio-metabolic and oncological indications are the focus for many pharmaceutical companies, physicians and scientists with specialist training in endocrinology, diabetes and metabolism are in demand. In addition to responsibilities in clinical trial design, drug safety and regulatory affairs, physician scientists with an intimate knowle...

The pharmaceutical industry provides challenging and rewarding career opportunities for physicians. Given that clinical drug development for cardio-metabolic and oncological indications are the focus for many pharmaceutical companies, physicians and scientists with specialist training in endocrinology, diabetes and metabolism are in demand. In addition to responsibilities in clinical trial design, drug safety and regulatory affairs, physician scientists with an intimate knowle...

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: 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...

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...

Case history: We present a 71 year old man, with a 3 year history of problematic hypertension (BP exceeding 190/100 on treatment), incidentally found to be hypokalaemic (K 1.8 mmol/l) during investigations for leg weakness. He had no clinical features to suggest an endocrinopathy. Investigations at his local centre revealed hypokalaemia dating back over 3 years.Investigations: Biochemistry:Na 142 mmol/l (135–145 mmol/l)<p ...

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition characterised by the predisposition to hyperplasia or the development of solitary adenomas of multiple endocrine gland. MEN1 related disease is responsible for death in two thirds of patients with this hereditary condition and the mean age at death is 55 years. This associated mortality necessitates a vigorous surveillance protocol, however all recommendations for radiological surveillance are based on non-pr...

Mutations affecting the mitochondrial enzyme succinate dehydrogenase (SDH) are associated with a wide spectrum of tumours. SDH deficient tumours have a unique tumour metabolome due to the interruption of the citric acid cycle and accumulation of the ‘oncometabolite’ succinate, which drives tumourigenesis. Investigating the tumour metabolome of SDH deficient tumours has potential translational application. MRI spectroscopy (1H-MRS) was used for in vivo<...

Introduction: It is established practice to localise parathyroid lesions preoperatively using ultrasound (US) and sestaMIBI (MIBI). Whilst these imaging techniques have good sensitivity/specify, there are patients in which imaging does not localise a parathyroid lesion. 11C-Methionine PET (MET PET) is an imaging modality where 11C-methionine, a radioactive tracer, is taken up at sites of protein/peptide synthesis and has been demonstrated to be effective ...

Introduction: We have reported a syndrome of hypoketotic hypoglycaemia due to the de novo p.Glu17Lys mutation in AKT2, a serine threonine kinase central to insulin signalling. We aimed to evaluate further the physiological and cellular consequences of the p.Glu17Lys mutation.Results: Two previously reported 17-year-old men heterozygous for the AKT2 p.Glu17Lys mutation, each of whom had experienced severe fasting hypoglycaemia in early life, were...