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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.
- 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.
Section 1: Introduction
Mechanisms of Mutation
Bernard S. Strauss
Section 2: Pancreas
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
Beatrice Dubern, Patrick Tounian, and Karine Clément
Syndromes of Severe Insulin Resistance and/or Lipodystrophy
Robert K. Semple, David B. Savage, David J. Halsall, and Stephen O’Rahilly
Section 3: Pituitary
Functioning Pituitary Adenomas
Albert Beckers and Adrian F. Daly
Soren Rittig and Jane H. Christensen
States of Pituitary Hypofunction
Christopher J. Romero and Sally Radovick
Section 4: Thyroid
Congenital Defects of Thyroid Hormone Synthesis
Helmut Grasberger and Samuel Refetoff
Developmental Abnormalities of the Thyroid
Joachim Pohlenz and Guy Van Vliet
Syndromes of Reduced Sensitivity to Thyroid Hormone
Roy E Weiss, Alexandra M. Dumitrescu and Samuel Refetoff
Molecular Genetics of Thyroid Cancer: Pathogenetic Significance and Clinical Applications
Nicholas Mitsiades and James A. Fagin
Section 5: Parathyroid and Bone
Genetics of Hyperparathyroidism Including Parathyroid Cancer
Andrew Arnold and Kelly Lauter
Genetic Diagnosis of Skeletal Dysplasias
Vitamin D Disorders
Michael F. Holick
Section 6: Adrenal
Congenital Adrenal Hyperplasia
Saroj Nimkarn and Maria I. New
Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes
Rossella Libé , Lionel Groussin, Jérôme Bertheratnbsp; and Xavier Bertagna
Hereditary Pheochromocytoma and Multiple Endocrine Neoplasia type 2 (MEN2)
Thereasa A. Rich, Camilo Jimenez and Douglas B. Evans
Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance
Constantine A. Stratakis
Section 7: Reproductive
Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities
Leslie Hoffman and David A. Ehrmann
Genetic Diagnosis of Hypogonadotropic Hypogonadism and Kallmann Syndrome
Lawrence C. Layman
Disorders of Sex Development
Valerie A. Arboleda, Alice A. Fleming and Eric Vilain
Genetic Defects of Androgen Resistance
Section 8: Multisystem Disorders
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
Genetics of Polyglandular Failure
Manuela Dittmar and George J. Kahaly
Section 9: Growth
Genetic Diagnosis of Growth Failure
Ron G. Rosenfeld and Vivian Hwa
Section 10: Counseling and Laboratory
Setting up a Laboratory
Loren J. Joseph
- No. of pages:
- © Academic Press 2010
- 27th April 2010
- Academic Press
- eBook ISBN:
- Hardcover ISBN:
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.
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 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.
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
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