Endocrine Abstracts

Alterations in thyroid function tests are common in non-thyroidal illness. There remains a significant debate as to whether these alterations contribute to morbidity and mortality. Recent data have highlighted the heterogeneity and natural history of altered thyroid function in non-thyroidal illness; particularly in relation to critical illness. Moreover, the biological mediators of these changes are becoming clearer. This presentation will review the physiology and pathophysi...

77 year old gentleman was referred to endocrine clinic at Manchester Royal Infirmary in June 2017 due thyrotoxicosis with TSH 0.10 mu/l, free T4 24.3 pmol/l, and free T3 15.7 pmol/l. He was presented at that time with symptoms of tiredness, fatigue and tremor. He was initially treated with antithyroid drugs from June 2018 till May 2018 with radioactive iodine 579 MBq in May 2018. Subsequently, he developed symptoms of excessive tiredness, lack of energy, weight gain and cold i...

A 44 year old lady presented with weight loss to the gastroenterologists and a CT abdomen done picked up a mass below the pancreas. She underwent a percutaneous biopsy of this mass and the histology revealed a paraganglioma. She was referred to the endocrinology team. Subsequent questioning revealed coexistent symptoms of cataecholamine excess and plasma metanephrines of 4825 pmol/l and plasma normetanephrines of 166 pmol/L gave biochemical confirmation. MIBG scan showed a dir...

A 45-year old lady admitted to hospital in October 2018 with generally unwell and nausea. She has a background of disseminated T.B. confirmed by EBUS with bronchoalveolar lavage in September 2018. She had previous CT thorax, abdomen and pelvis in September 2018 which was reported as extensive lymphadenopathy with omental and peritoneal thickening. She also has a history of vitamin D deficiency in August 2018 at 7.1 nmol/l and was treated with oral colecalciferol. The biochemic...

VHL is an autosomal dominant familial cancer syndrome with renal, CNS and pancreato-biliary manifestations in addition to phaeochromocytoma (PC)/paraganglioma (PGL). Importantly, there is a partial genotype–phenotype correlation, with kindreds harboring deletions and mutations of the VHL gene leading to premature termination/truncation not manifesting PC/PGL. As genetic testing in PC/PGL moves from a research-focus into clinical service, knowledge and understanding...

Case history: Hereditary paragangliomas (PGLs) associated with loss of function mutations in SDHx and VHL genes have revealed a remarkable connection between these conditions and the hypoxia signalling pathway: with a ‘pseudohypoxic profile’ driving hypoxia inducible factor (HIF) activity and tissue-limited cellular proliferation. We present a case of sporadic, multiple PGL mediated by HIF activation through true hypoxia. A 32 year old female was re...

Objective: Suboptimal mitochondrial function has been implicated in several disorders where fatigue is a prominent feature. Vitamin D deficiency is a well-recognised cause of fatigue and myopathy. The aim of this study was to examine the effects of cholecalciferol therapy on skeletal mitochondrial oxidative function in symptomatic, vitamin D deficient individuals.Design: This longitudinal study assessed mitochondrial oxidative phosphorylation in the gast...

Context: GH deficient (GHD) adults can experience fatigue which resolves with GH replacement. The precise basis of this is unclear. Suboptimal mitochondrial function has been demonstrated in several conditions in which fatigue is a prominent symptom. Phosphorus-31 magnetic resonance spectroscopy (31P-MRS) can measure maximal mitochondrial oxidative phosphorylation, an important parameter of mitochondrial function. We have adapted this technique to enable non-invasive measureme...

Background: Adults with GH deficiency (GHD) have altered body composition with an increase in abdominal fat when compared with healthy matched controls. However, most studies have not compared GHD adults with GHD adults on GH replacement.Abdominal fat is composed of subcutaneous abdominal tissue (SAT) and visceral abdominal tissue (VAT). Increased VAT is associated with poor metabolic outcomes. Magnetic Resonance Imaging (MRI) is a reliable and reproduci...

Introduction: Mitochondria are critical organelles which generate most of the energy (ATP) in the eukaryotic cell by oxidative phosphorylation. Impaired mitochondrial function will, therefore, restrict myocellular function. Vitamin D deficiency is widely prevalent with fatigue amongst its commonest manifestation. 31P-MRS is a non-invasive technique used to measure skeletal muscle bioenergetics in vivo. We have examined the relationship between vitamin D and mitochon...