The Quest Diagnostics Manual: Endocrinology: Test Selection and Interpretation PDF
Preview The Quest Diagnostics Manual: Endocrinology: Test Selection and Interpretation
The Quest Diagnostics Manual Endocrinology Test Selection and Interpretation Fourth Edition The Quest Diagnostics Manual Endocrinology Test Selection and Interpretation Fourth Edition Edited by: Delbert A. Fisher, MD Senior Science Officer Quest Diagnostics Nichols Institute Professor Emeritus, Pediatrics and Medicine UCLA School of Medicine Consulting Editors: Wael Salameh, MD, FACP Medical Director, Endocrinology/Metabolism Quest Diagnostics Nichols Institute San Juan Capistrano, CA Associate Clinical Professor of Medicine, David Geffen School of Medicine at UCLA Richard W. Furlanetto, MD, PhD Medical Director, Endocrinology/Metabolism Quest Diagnostics Nichols Institute Chantilly, VA ©2007 Quest Diagnostics Incorporated. All rights reserved. Fourth Edition Printed in the United States of America Quest, Quest Diagnostics, the associated logo, Nichols Institute, and all associated Quest Diagnostics marks are the trademarks of Quest Diagnostics. All third party marks − ®' and ™' − are the property of their respective owners. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, and information storage and retrieval system, without permission in writing from the publisher. Address inquiries to the Medical Information Department, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690-6130. Previous editions copyrighted in 1996, 1998, and 2004. Re-order # IG1984 Forward Quest Diagnostics Nichols Institute has been committed to providing state of the art endocrine testing for nearly 4 decades. During this time, we have introduced assays for most of the endocrine systems hormones, important metabolites and carrier proteins, free hormones, many hormone receptors, endocrine system autoantibodies, relevant chromosomal abnormalities, and selected genetic mutations. Our commitment to state of the art diagnostics and our dedication to quality and service have always included both adult and pediatric patients, and we have an ongoing program providing adult and pediatric reference range and clinical correlations data. Additionally, we have special procedures for identification and handling of pediatric samples, including reduced sample volume, whenever possible. In this manual, we have consolidated detailed technical information for more than 150 of the endocrine and endocrine-related tests performed at Nichols Institute. The manual includes an overview of the physiology of each endocrine system, the diagnostic applications of each test, interpretation of test results, and a catalog of the endocrine-related dynamic or perturbation tests that facilitate diagnosis and patient management. For your convenience, we have included a guide for interconversion of conventional and SI units for our endocrine tests. In addition, we have indexed our endocrine tests in several formats to provide easier access to the information. National Quest Diagnostics test codes are listed for each of the tests described in the Alphabetical Test section. Methodologies may differ for the non-Nichols Institute regional laboratory tests; information and reference ranges for these tests are available from your sales representative or regional laboratory personnel. We trust that the manual will assist you in the diagnosis and management of your adult and pediatric patients and reiterate our commitment at Quest Diagnostics to provide you with the highest quality test results and ready availability of consultative services. Our laboratory staff and our Medical and Scientific Directors are available for consultation to help assure the most efficacious resolution of complex or confusing endocrine problems. We welcome your feedback and suggestions for improving our service to you. Delbert A. Fisher, MD Senior Science Officer Quest Diagnostics Nichols Institute v Acknowledgments Normative data were developed by the Clinical Correlations department under direction of Dr. Richard Reitz, Esther Carlton, and Collette Scheele. Text development, overall composition, and project direction were accomplished by Patricia Vendely. Mary Jane Michel assisted with typing; Lorraine Saunders was responsible for formatting; and Lynn Ricard helped with proofing. For their dedicated contributions, the editor is indeed grateful. Delbert A. Fisher, MD vi Contents Page Forward....................................................................................................................v Acknowledgments..............................................................................................vi Endocrine Test Categories and Associated Tests Adrenocortical Function........................................................................................3 Cardiovascular/Lipids............................................................................................4 Catecholamines.......................................................................................................5 Congenital Adrenal Hyperplasia (CAH)...............................................................5 Endocrine Autoimmunity.......................................................................................5 Fluid, Electrolyte, and Renal..................................................................................6 Genetic (Biochemical and Cytogenetic)...............................................................7 Gonadal Function...................................................................................................8 Growth and Growth Hormone...............................................................................9 Hypothalamic and Pituitary Function...................................................................9 Metabolic (Including Diabetes Mellitus) and Gastrointestinal Disorders.........10 Multiple Endocrine Neoplasia.............................................................................11 Parathyroid and Mineral Metabolism..................................................................12 Thyroid Function..................................................................................................12 Additional Diagnostic Profiles..............................................................................13 Perturbation Tests.................................................................................................14 Alphabetical Test Section See Test Index for list of tests included in this section.......................................15 Test Application and Interpretation Preface.................................................................................................................189 Disorders of Adrenal Function Background Physiology .................................................................................190 Adrenal Insufficiency .....................................................................................193 Adrenal Biosynthetic Enzyme Deficiencies ..................................................193 Classical Congenital Adrenal Hyperplasia (CAH) ...................................193 Nonclassical Disease (Partial Deficiency in Steroid Biosynthesis) ..........205 Cushing's Syndrome ...................................................................................206 Renin-Angiotensin – Aldosterone System (RAAS).......................................207 Background Physiology...............................................................................207 Assessment of Disorders of the RAAS........................................................208 Primary Aldosteronism...........................................................................210 Renovascular Hypertension....................................................................210 Dexamethasone-suppressible Hyperaldosteronism..............................211 Pseudohypoaldosteronism......................................................................211 Adrenal Diagnosis via Urine GC/MS Metabolite Analysis ..........................211 vii Contents Page References.......................................................................................................215 Disorders of Anterior Pituitary Function Background Physiology..................................................................................217 Hypopituitarism..............................................................................................218 Pituitary Adenomas.........................................................................................220 General Features.........................................................................................220 Prolactinoma...............................................................................................221 Acromegaly..................................................................................................222 Cushing's Disease........................................................................................223 Thyrotropinoma..........................................................................................223 Gonadotropinoma......................................................................................223 References.......................................................................................................224 Disorders of Calcium and Bone Metabolism Background Physiology .................................................................................225 Laboratory Assessment of Disorders of Calcium Metabolism .....................226 Evaluation of Hypercalcemia .....................................................................228 Evaluation of Hypocalcemia.......................................................................229 Vitamin D Deficiency......................................................................................230 Vitamin D Metabolism in Renal Failure........................................................230 Metabolic Bone Disease .................................................................................232 Clinical Application of Bone Markers........................................................233 Diagnosis of Bone Disorders .................................................................233 Diagnosis of Osteoporosis......................................................................236 Efficacy of Therapy.................................................................................236 Follow-up to Therapy..............................................................................236 References.......................................................................................................236 Disorders of Carbohydrate Metabolism Background Physiology..................................................................................239 Hyperglycemic Disorders...............................................................................239 Type 1 Diabetes...........................................................................................240 Maturity Onset Diabetes of the Young (MODY).......................................243 Type 2 Diabetes...........................................................................................243 Diagnosis of Diabetes Mellitus....................................................................244 Preventing and Managing Complications.................................................244 Hypoglycemic Disorders.................................................................................248 Diagnostic Approach..................................................................................249 References.......................................................................................................251 Disorders of Gonadal Function Background Physiology..................................................................................255 viii Contents Page Development of the Hypothalamic–Pituitary Axis and Isolated GnRH Deficiency ........................................................................................255 Regulation of Pubertal Onset.....................................................................256 Regulation of the Mature Hypothalamic–Pituitary–Gonadal Axis...........256 Gonadal Determination and Differentiation............................................259 Measurement of Pituitary–Gonadal Axis Hormones....................................261 Luteinizing Hormone.................................................................................261 Follicle Stimulating Hormone....................................................................261 Estrogens......................................................................................................261 Testosterone.................................................................................................262 Sex Hormone Binding Globulin................................................................263 Inhibin.........................................................................................................263 Abnormalities of Sexual Determination and Differentiation......................263 Disorders of Sexual Maturation.....................................................................264 Normal Puberty Staging.............................................................................264 Timing of Physical Changes of Puberty.....................................................264 Normal Variants of Puberty........................................................................266 Precocious Puberty......................................................................................267 Delayed or Absent Puberty.........................................................................267 Disorders of Testicular Function....................................................................269 Developmental Disorders...........................................................................269 Disorders of the Germinal Cells.................................................................269 Testicular Aging...........................................................................................271 Disorders of Ovarian Function.......................................................................272 Premature Ovarian Failure.........................................................................273 Polycystic Ovarian Syndrome.........................................................................274 Assessment of Functional Gonadal Tumors..................................................275 References.......................................................................................................276 Disorders of the Growth Hormone–Insulin-like Growth Factor Axis Background Physiology .................................................................................279 Growth Hormone Deficiency in Children.....................................................282 Growth Hormone Deficiency in Adults.........................................................283 Growth Hormone Excess ...............................................................................284 Laboratory Assessment of the Growth Hormone – IGF Axis.......................284 Insulin-like Growth Factors and Binding Proteins ...................................285 Growth Hormone Dynamic Testing...........................................................289 References ......................................................................................................290 Disorders of Thyroid Function Background Physiology..................................................................................293 Differential Diagnosis of Thyroid Disorders.................................................295 Primary Hypothyroidism.............................................................................298 ix
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