Endocrine Abstracts

The hypothalamo-pituitary-adrenal (HPA) axis is essential component of the physiological stress response. Functional hypoadrenalism is a hypothetical contributor to mortality in the critically ill, though biochemical evidence for this is conflicting. Most studies have shown that 'high' random plasma cortisol in the first 24 hours of illness is associated with a high mortality. However, these data may be confounded by increased severity of illness in high mortality cohorts. Giv...

A gender-related bias in survival rates has been demonstrated in rodent models of critical illness. Sex steroids have differential effects on metabolic, immune and cardiovascular end points which may underlie these observations. The hypothalamo-pituitary-gonadal (HPG) axis response to critical illness in humans is poorly characterised. We have conducted a prospective study to characterise this response in the context of heterogeneous disease severity and disturbances in overal...

Maternal thyroxine (T4) deficiency is associated with adverse outcome for mother and infant such that selective screening has been advocated. Thyroid hormone production increases in pregnancy, T4-dependent patients requiring increased treatment. To highlight aspects of current service delivery and guide service development, we audited management of pregnant women requiring T4 in our city over one year.Cases were identified retrospectively through a data...

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...

Background: 3.8 per 1000 UK babies are stillborn, a large proportion of which are “unexplained”; aberrations in adrenal hormones and bile acids are possible contributors. In this study, we aimed to develop methodologies for simple laboratory measurement of adrenal hormone and bile acid concentrations that can be applied to postnatal samples from stillborn babies, using hair as a relatively stable medium, reflective of retrospective fetal hormone leve...

Empty sella is an incidental finding characterised by the herniation of subarachnoid space into the sella turcica with resultant flattening of pituitary gland to varying extent. It was considered benign. But recent reviews have shown its association with some neuroendocrinopathies.Aims and Objectives: To determine if patients with radiological diagnosis of PESS were;1. Referred to Endocrinology team?2. What p...

Introduction: Copeptin is the C-terminal fragment of proAVP and secreted in equimolar amounts with AVP. While AVP is unstable in vitro and has proved difficult to measure in clinical practice, copeptin is relatively stable and can be measured using an automated immunoassay. Therefore copeptin measurement offers potential as a more practical alternative to the direct measurement of AVP in the investigation of polyuria/polydipsia.Methods: AVP, cop...

Introduction: Measurement of plasma metanephrines (PMETS) is widely regarded as one of the best screening tests for phaeochromocytoma/paraganglioma (P/PGL). Current Endocrine Society guidelines recommend that samples for PMETS are ideally collected in the supine position after 30 min rest and interpreted using supine reference ranges, in order to optimise the diagnostic performance of the test. Current practice in our centre is to collect samples for PMETS from seated patients...

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...