Genetic Diagnosis of Endocrine Disorders

"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