Genetic Diagnosis of Endocrine Disorders book cover

Genetic Diagnosis of Endocrine Disorders

Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia?

The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists, pediatricians and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases.

Hardbound, 336 Pages

Published: April 2010

Imprint: Academic Press

ISBN: 978-0-12-374430-2


  • "In the era of molecular medicine, understanding the genetic basis of disease is at the core. Nowhere is this more applicable than in endocrinology, where the genetic basis of disease underpins its research, practice, and therapy. This timely book brings together an international group of outstanding experts to discuss endocrine genetics, its importance, how to apply this knowledge and where to obtain the genetic tests. Chapters are richly illustrated, linking the physiology and presentation to the specific genetic or molecular defect. Genetic Diagnosis of Endocrine Disorders is a must for the bookshelf of endocrinologists and their trainees."

    --Mark A. Sperling, M.D., Professor of Pediatrics, Division of Endocrinology, Diabetes and Metabolism, Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

    "Genetic Diagnosis of Endocrine Disorders is clearly written and contains sufficient and accurate information about genetic endocrine disorders. Specifically this book identifies the priority of genes that should be analyzed when doctors have patients with possible genetic endocrine diseases. As a doctor involved in basic and clinical thyroid research, Genetic Diagnosis of Endocrine Disorders is the book that I have been waiting for."

    --Yoshiharu Murata, M.D. Ph. D., Professor, Department of Genetics, Division of Stress Adaptation and Protection, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan

    "This timely textbook has been written by the top scientists in their specific fields, with a well integrated series of chapters that cover all aspects of genetic disorders of the endocrine glands. Many schematic presentations of biochemical pathways and proposed genetic screening algorithms render the book not only very interesting, but also very useful in the daily management of patients. Readers will learn how to interpret the results of specific tests, where to send the DNA for analysis, and which is the supporting group if they need advice. Prenatal testing and genetic counseling are also well documented in each chapter. In conclusion, this book will become a fundamental instrument for endocrinologists, as well as for physicians and students of other related disciplines. The ultimate beneficiaries will be the patients who will receive more efficient, comprehensive and modern diagnoses, as well as possible treatment of their diseases."

    --Paolo Beck-Peccoz, MD, Professor of Endocrinology, University of Milan, Fondazione IRCCS Cà Granda Policlinico, Milan, Italy

     "This first edition of Genetic Diagnosis of Endocrine Disorders provides the clinician endocrinologist with a wide spectrum of information, going from pathophysiology to genotype/phenotype relationships, and serving as a practical source of information regarding available genetic tests. Quite logically, the book focuses on monogenic diseases, but the reader will also find up to date and useful handling of some multigenic/multifactorial diseases. It offers concise, convenient access to basic and practical knowledge of the genetics of endocrine diseases."

    --Gilbert Vassart, Department of Medical Genetics, Free University Brussels, Belgium

    "This textbook is the first of its kind bridging the genetic abnormalities, biochemical disturbances and clinical features of endocrine disorders.  The comprehensive yet succinct chapters provide detailed information in a very readable format. This text will be an invaluable resource for students as well as experienced clinicians."

    --Michael Gottschalk, M.D., Ph.D., Chief, Pediatric Endocrinology, UCSD/Rady Childrens Hospital , San Diego, CA, USA



  • Preface

    Section 1: Introduction

    Chapter 1

    Mechanisms of Mutation

    Bernard S. Strauss

    Section 2: Pancreas

    Chapter 2

    Genetic Testing in Diabetes Mellitus: A Clinical Guide to Monogenic Diabetes

    Louis H. Philipson, Rinki Murphy, Sian Ellard, Andrew T. Hattersley, Julie Støy, Siri A. Greeley, Graeme I. Bell and Kenneth S. Polonsky

    Chapter 3


    Beatrice Dubern, Patrick Tounian, and Karine Clément

    Chapter 4

    Syndromes of Severe Insulin Resistance and/or Lipodystrophy

    Robert K. Semple, David B. Savage, David J. Halsall, and Stephen O’Rahilly

    Section 3: Pituitary

    Chapter 5

    Functioning Pituitary Adenomas

    Albert Beckers and Adrian F. Daly

    Chapter 6

    Diabetes Insipidus

    Soren Rittig and Jane H. Christensen

    Chapter 7

    States of Pituitary Hypofunction

    Christopher J. Romero and Sally Radovick

    Section 4: Thyroid

    Chapter 8

    Congenital Defects of Thyroid Hormone Synthesis

    Helmut Grasberger and Samuel Refetoff

    Chapter 9

    Developmental Abnormalities of the Thyroid

    Joachim Pohlenz and Guy Van Vliet

    Chapter 10

    Syndromes of Reduced Sensitivity to Thyroid Hormone

    Roy E Weiss, Alexandra M. Dumitrescu and Samuel Refetoff

    Chapter 11

    Molecular Genetics of Thyroid Cancer: Pathogenetic Significance and Clinical Applications

    Nicholas Mitsiades and James A. Fagin

    Section 5: Parathyroid and Bone

    Chapter 12

    Genetics of Hyperparathyroidism Including Parathyroid Cancer

    Andrew Arnold and Kelly Lauter

    Chapter 13

    Genetic Diagnosis of Skeletal Dysplasias

    Benjamin Alman

    Chapter 14

    Vitamin D Disorders

    Michael F. Holick

    Section 6: Adrenal

    Chapter 15

    Congenital Adrenal Hyperplasia

    Saroj Nimkarn and Maria I. New

    Chapter 16

    Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes

    Rossella Libé , Lionel Groussin, Jérôme Bertheratnbsp; and Xavier Bertagna

    Chapter 17

    Hereditary Pheochromocytoma and Multiple Endocrine Neoplasia type 2 (MEN2)

    Thereasa A. Rich, Camilo Jimenez and Douglas B. Evans

    Chapter 18

    Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance

    Constantine A. Stratakis

    Section 7: Reproductive

    Chapter 19

    Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities

    Leslie Hoffman and David A. Ehrmann

    Chapter 20

    Genetic Diagnosis of Hypogonadotropic Hypogonadism and Kallmann Syndrome

    Lawrence C. Layman

    Chapter 21

    Disorders of Sex Development

    Valerie A. Arboleda, Alice A. Fleming and Eric Vilain

    Chapter 22

    Genetic Defects of Androgen Resistance

    Kenan Qin

    Section 8: Multisystem Disorders

    Chapter 23

    Multiple Endocrine Neoplasia Type 1 (MEN1)

    Cornelis J.M. Lips, Koen M.A. Dreijerink, Rob B. van der Luijt, Bernadette P.M. van Nesselrooij and Jo W.M. Höppener

    Chapter 24

    Genetics of Polyglandular Failure

    Manuela Dittmar and George J. Kahaly

    Section 9: Growth

    Chapter 25

    Genetic Diagnosis of Growth Failure

    Ron G. Rosenfeld and Vivian Hwa

    Section 10: Counseling and Laboratory

    Chapter 26

    Genetic Counseling

    Shelly Cummings

    Chapter 27

    Setting up a Laboratory

    Loren J. Joseph


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