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Genetic Diagnosis of Endocrine Disorders - 1st Edition - ISBN: 9780123744302, 9780080922287

Genetic Diagnosis of Endocrine Disorders

1st Edition

Editors: Roy E. Weiss Samuel Refetoff
eBook ISBN: 9780080922287
Hardcover ISBN: 9780123744302
Imprint: Academic Press
Published Date: 27th April 2010
Page Count: 336
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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.

Key Features

  • Selected for inclusion in Doody's Core Titles 2013, an essential collection development tool for health sciences libraries
  • Presents a comprehensive, translational look at all aspects of genetic diagnosis of endocrine disorders in one reference work
  • Endocrinology experts (the researchers who discovered the majority of the gene mutations for a particular disease) teach readers about the molecular basis for diseases in each major endocrine organ system
  • Clear presentation by geneticists of pharmacogenetics and the actual assays used in detecting endocrine diseases
  • Genetic counselors offer expert advice on how to use genetic information in counseling patients


Clinical and academic endocrinologists; clinical geneticists and genetic counselors; medical libraries; graduate academic libraries.

Table of Contents


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


No. of pages:
© Academic Press 2010
27th April 2010
Academic Press
eBook ISBN:
Hardcover ISBN:

About the Editors

Roy E. Weiss

Roy E. Weiss

Dr. Roy Weiss joined the University of Miami Leonard M. Miller School of Medicine as Chairman and the Kathleen and Stanley Glaser Distinguished Chair in Medicine in June 2014. He is also the Rabbi Morris I. Esformes Professor Emeritus at the University of Chicago. Dr. Weiss is an expert in diseases of the thyroid and has described several genetic diseases of the thyroid along with Dr. Samuel Refetoff. Together, they have one of the largest referral centers for genetic thyroid disease in the world. His research centers on the mechanisms of thyroid hormone action at the molecular, physiological, and psychological levels. Dr. Weiss has examined the molecular basis for the syndrome of resistance to thyroid hormone (RTH) as well as other diseases of thyroid hormone action. He has published over 175 papers. He is a fellow in the American College of Physicians, The American College of Endocrinology, and the American Academy of Pediatrics. His research has been supported by the NIH and has received numerous teaching awards. He is the current President of the Central Society for Clinical and Translational Research.

Affiliations and Expertise

Kathleen and Stanley Glaser Distinguished Chair in Medicine and Chairman, Department of Medicine, University of Miami Leonard M. Miller School of Medicine, Miami, FL USA and Rabbi Esformes Professor Emeritus of Medicine, The University of Chicago, Chicago, IL. USA

Samuel Refetoff

Samuel Refetoff

Samuel Refetoff is known for his discovery (1967) of resistance to thyroid hormone (Refetoff Syndrome) and elucidation of its genetic and molecular basis (1989/92). Devoted to the study of inherited thyroid disorders, his laboratory was first to identify mutations in: serum thyroid hormone transport proteins [TBG (1989) and albumin (1994)]; the TSH receptor producing resistance to TSH (1995); and two syndromic thyroid defects combining neuropsychological and thyroid abnormalities caused by mutations in the TTF1 (2002) and the MCT8 (2004) genes. In 2005 his laboratory identified a defect of TH metabolism caused by mutations in the SBP2 gene, which is involved in the synthesis of selenoproteins. A graduate of McGill University, Dr. Refetoff is professor of medicine, pediatrics and genetics at the University of Chicago. He is author of over 500 publications and recipient of numerous national and international prizes, two NIH MERIT awards (1989/2006) and three honorary doctorate degrees.

Affiliations and Expertise

Frederick H. Rawson Professor, Departments of Medicine, Pediatrics and the Committees on Genetics and Molecular Medicine, The University of Chicago, Chicago, IL, USA


Doody’s Core Titles 2013, Doody Enterprises


"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


Ratings and Reviews