Endocrine Abstracts

Introduction: National Standards and Guidelines for referral of presumptive cases of congenital hypothyroidism (CHT) were developed in 2005 by the UK newborn bloodspot screening (NBS) programme centre (UKNSPC). The standards are being revised and NBS lab experience was explored as part of this process.Methods: A short questionnaire was circulated to all 16 UK NBS laboratories. The information requested included details of referral pattern in the event of...

Introduction: Patients with mitochondrial disease have abnormal cellular adenosine triphosphate (ATP) generation that results in a broad phenotype with a diverse clinical presentation. Abnormal growth and short stature have been observed in children and adults with mitochondrial disease and we hypothesized that stature in affected individuals would reflect disease severity.Method: We extracted height, weight and molecular genetic data from the UK Mitocho...

Background: Relapse rates in young people with Graves’ disease (GD) are around 75% after 2 years of antithyroid drugs (ATD). However, there is little mechanistic insight into the pathophysiology of relapse and a lack of robust predictive biomarkers. B cell subsets and related cytokines may reflect humoral immune activity, for which T cells have an important supporting role.Aims: The purpose of this study was to evaluate T and B cell subpopulations, ...

Background and Aims: Relapse in Graves’ disease (GD) often occurs after antithyroid drugs (ATD) are withdrawn, however there is a lack of robust predictive biomarkers for relapse and little mechanistic insight into its pathophysiology. B-cell related cytokines and chemokines may reflect humoral immune activity and therefore be predictive of outcome. The purpose of this study was to evaluate serum B-cell activating factor (BAFF), Chemokine ligand 13 (CXCL13), A-proliferati...

Activation of the hypothalamo-pituitary-gonadal axis, from the third trimester of pregnancy to the first post-natal months in males, results in serum concentrations of gonadotrophins and testosterone approaching adult levels. This phase, known as male mini-puberty, represents a key window of opportunity to identify congenital GnRH deficiency in early childhood.We present a case to illustrate the diagnostic efficiency of screening for mini-puberty in a ma...

Background: Data remain conflicting regarding the long-term metabolic consequences of prematurity and the impact of early nutrition and catch-up growth. Adiponectin and leptin are adipocyte derived proteins (adipokines) and are thought to be important regulators of insulin action.Objectives: i) To investigate the influence of infant growth and contemporary body composition on adolescent adipokine secretion.ii) To investigate the co...

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...