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Genetic Diagnosis of Endocrine Disorders, Second Edition

✍ Scribed by Roy E. Weiss MD PhD FACP FACE, Samuel Refetoff MD

Publisher
Academic Press
Year
2015
Tongue
English
Leaves
414
Edition
[2nd edition]
Category
Library
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✦ Synopsis

Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders.

The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias.

  • Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases
  • Teaches the essentials of the genetic basis of disease in each major endocrine organ system
  • Offers expert advice from genetic counselors on how to use genetic information in counseling patients
  • Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing

✦ Table of Contents

Content:
Front matter,Copyright,List of Contributors,Preface to the First Edition,Preface to the Second EditionEntitled to full textI: IntroductionChapter 1 - Mechanisms of Mutation, Pages 3-18, Bernard S. Strauss
Chapter 2 - A Clinical Guide to Monogenic Diabetes, Pages 21-30, David Carmody, Julie Støy, Siri Atma W. Greeley, Graeme I. Bell, Louis H. Philipson
Chapter 3 - Hypoglycemia, Pages 31-75, Dorit Koren, Andrew Palladino
Chapter 4 - Functioning Pituitary Adenomas, Pages 79-91, Albert Beckers, Liliya Rostomyan, Adrian F. Daly
Chapter 5 - Diabetes Insipidus, Pages 93-101, Jane Hvarregaard Christensen, Søren Rittig
Chapter 6 - States of Pituitary Hypofunction, Pages 103-113, Christopher J. Romero, Andrea L. Jones, Sally Radovick
Chapter 7 - Congenital Defects of Thyroid Hormone Synthesis, Pages 117-125, Helmut Grasberger, Samuel Refetoff
Chapter 8 - Developmental Abnormalities of the Thyroid, Pages 127-136, Joachim Pohlenz, Guy Van Vliet, Johnny Deladoëy
Chapter 9 - Syndromes of Impaired Sensitivity to Thyroid Hormone, Pages 137-151, Roy E. Weiss, Alexandra M. Dumitrescu, Samuel Refetoff
Chapter 10 - Molecular Diagnosis of Thyroid Cancer, Pages 153-162, Furio Pacini, Silvia Cantara
Chapter 11 - Genetics of Hyperparathyroidism Including Parathyroid Cancer, Pages 165-172, Andrew Arnold, Kelly Lauter
Chapter 12 - Genetic Diagnosis of Skeletal Dysplasias, Pages 173-189, Murray J. Favus
Chapter 13 - Vitamin D Disorders, Pages 191-199, Michael F. Holick
Chapter 14 - Congenital Adrenal Hyperplasia, Pages 203-210, Mabel Yau, Saroj Nimkarn, Maria I. New
Chapter 15 - Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes, Pages 211-219, Rossella Libé, Guillaume Assié, Lionel Groussin, Jérôme Bertherat, Xavier Bertagna
Chapter 16 - Hereditary Syndromes Involving Pheochromocytoma and Paraganglioma, Pages 221-234, Jennifer L. Geurts, Thereasa A. Rich, Douglas B. Evans, Tracy S. Wang
Chapter 17 - Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance, Pages 235-246, Margarita Raygada, Constantine A. Stratakis
Chapter 18 - Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities, Pages 249-258, Milad Abusag, David A. Ehrmann, Leslie Hoffman
Chapter 19 - Disorders of Sex Development, Pages 259-278, Valerie Arboleda, Eric Vilain
Chapter 20 - Androgen Insensitivity Due to Mutations of the Androgen Receptor, Pages 279-288, Michael J. McPhaul
Chapter 21 - Obesity, Pages 291-305, Hélène Huvenne, Patrick Tounian, Karine Clément, Béatrice Dubern
Chapter 22 - Syndromes of Severe Insulin Resistance and/or Lipodystrophy, Pages 307-324, Robert K. Semple, David B. Savage, Gemma V. Brierley, Stephen O’Rahilly
Chapter 23 - Lipodystrophies, Pages 325-339, Abhimanyu Garg
Chapter 24 - Multiple Endocrine Neoplasia Type 1 (MEN1), Pages 343-359, Cornelis J. Lips, Gerlof D. Valk, Koen M. Dreijerink, Marc Timmers, Rob B. van der Luijt, Thera P. Links, Bernadette P.M. van Nesselrooij, Menno Vriens, Jo W. Höppener, Inne Borel Rinkes, Anouk N.A. van der Horst-Schrivers
Chapter 25 - Genetics of Polyglandular Failure, Pages 361-373, George J. Kahaly
Chapter 26 - Genetic Diagnosis of Growth Failure, Pages 377-385, Ron G. Rosenfeld, Vivian Hwa
Chapter 27 - Cost-Effectiveness of Genetic Testing for Monogenic Diabetes, Pages 389-396, Rochelle N. Naylor, Siri Atma W. Greeley, Elbert S. Huang
Chapter 28 - Genetic Counseling: The Role of Genetic Counselors on Healthcare Provider and Endocrinology Teams, Pages 397-408, Sarah M. Nielsen, Shelly Cummings
Chapter 29 - Setting Up a Laboratory, Pages 409-426, Loren J. Joseph
Chapter 30 - Introduction to Applications of Genomic Sequencing, Pages 427-433, Stephan Zuchner
Index, Pages 435-444

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