Endocrine Abstracts

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Background and Aims: Relapse in Graves’ disease (GD) often occurs after antithyroid drugs (ATD) are withdrawn, however there is a lack of robust predictive biomarkers for relapse and little mechanistic insight into its pathophysiology.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...

Introduction: The commonest pathological cause of goitre in adolescence in the UK is autoimmune thyroid disease. Other thyroid pathologies may occasionally co-exist either linked to the autoimmune process or occurring together by chance.Case report: A previously fit and healthy 15-year-old male presented as an emergency with a 10-day history of painless neck swelling. He had no breathing difficulty, dysphagia or voice change and was also clinically euthy...

Introduction: The BSPED UK thyrotoxicosis study has been running for 10 years. The primary objective is to assess biochemical control on block and replace (BR) and dose titration (DT) regimens. The final patient was recruited towards the end of 2011 and study will finish in 2015. We would like to describe the baseline characteristics of study patients and the initial response to anti-thyroid drug therapy (ATD).Methods: We focused on patient age, sex, BMI...

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...