Endocrine Abstracts

Hyponatraemia is the commonest electrolyte disturbance among inpatients. Prompt diagnosis and management of the underlying cause is important. A 49-year-old Caucasian male presented to the emergency department with a two-day history of fever, altered mental status, vomiting, diarrhoea and postural dizziness. A rapid point of care RT-PCR test resulted positive for the SARS-CoV-2. A provisional diagnosis was presented of COVID-19 encephalopathy. The patient was usually fit and w...

It is now recognized that vitamin D influences the innate immune system and recent studies have highlighted the importance of local synthesis of 1,25-dihydroxyvitamin D (1,25D) for these responses. Production of 1,25D from 25-hydroxvitamin D (25D) is catalyzed by 25-hydroxyvitamin D 1α-hydroxylase (CYP27B1; 1α-OHase). Vitamin D is metabolized by 24-hydroxylase (CYP24A1; 24-OHase). A key part of the innate immune response is pathogen recognition by the toll-like recep...

Background: Multiple endocrine neoplasia type 2 (MEN2) is a group of pleomorphic syndromes which infer a susceptibility to several endocrine conditions. The RET Val804Met mutation is classified as a moderate-risk mutation for familial medullary thyroid cancer (MTC), without the other components of MEN2 syndromes. However, here we describe a rare case of a gentleman with RET p.V804M, presenting with primary hyperparathyroidism (PHPT) and no evidence of MTC.<p class="abstext...

Monitoring patients with NETs reveals a significant prevalence of gastrointestinal symptoms, often unrelated directly to the tumour1. Exocrine pancreatic insufficiency exemplifies a common treatable cause of gastrointestinal symptoms in NET patients undergoing therapy with somatostatin analogues. There is a paucity of data regarding this important issue which affects quality of life in NETs. We explored the value of faecal elastase (FE) as a marker of exocrine pancr...

Vitamin D deficiency is associated with the development of some cancers and in vitro 1,25-dihydroxyvitamin D (1,25D) reduces cell proliferation. We suggest that modification of tissue specific immune responses, as a consequence of local synthesis of 1,25D, may be key. To assess the impact of serum 25D on the risk of bladder cancer we conducted a systematic review. To test our hypothesis, expression of vitamin D signalling components and the synthesis of 1,25D were exa...

Since the advent of effective combined antiretroviral therapy (ART), mortality due to HIV disease has significantly declined. Changing trends in HIV-associated morbidity is surfacing, firstly due to the effect of HIV on virtually every human organ system and secondly due to improved life expectancy and consequent development of natural co-morbid illnesses. HIV associated endocrinopathies and metabolic diseases pose a significant disease burden in these patients. We discuss thr...

Introduction: Insulinoma is a tumour, derived from the beta cells of the pancreas. The incidence in the general population is 4 cases per million a year. 80 to 90% of insulinomas are benign and <10% are malignant.Case presentation: A 67-year-old lady was admitted via the emergency department after being found unresponsive at home. She was found to be hypoglycaemic and responded to i.v. dextrose. She was diagnosed with type 2 diabetes mellitus a year ...

Hypophosphatemia is commonly missed due to nonspecific signs and symptoms. It can cause muscle weakness, confusion, white blood cell dysfunction and disrupt cardiopulmonary systems. Three main mechanisms of hypophosphatemia are shifts from the extracellular to intracellular compartment, increased renal excretion and decreased intestinal absorption. Here we report a case of symptomatic hypophosphatemia post ferric carboxymaltose (Ferrinject) infusion. A 42 year old lady with lo...

Acromegaly is a clinical manifestation of excessive peripheral growth hormone (GH) action. Most cases result from pituitary somatotroph adenomas displaying varying degrees of GH immunoreactivity. Occasionally, GH is cosecreted with a second hormone from adenomas containing mixed cell populations (e.g. somatolactotroph tumours). Coexistence of multiple discrete adenomas, identical or distinct in hormone secretion, is infrequent. In very rare cases, acromegaly results from neuro...

Tumours caused by mutations in the SDH enzyme complex have a unique tumour metabolome due to a truncated citric acid cycle. The accumulation of the onco-metabolite succinate is believed to drive tumourigenesis. The aim was to investigate the role of MRI spectroscopy (H-MRS) to detect in vivo succinate elevations in suspected SDH deficient tumours including GIST, phaeochromocytoma/paraganglioma (PPGL) and pituitary adenomas (PA). Suitable patients were identified based...