Genetic Diagnosis Of Endocrine Disorders

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

This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

This text was conceived as a tool to address the problems encountered by an endocrinologist when sureveying the wealth of information available from the past two decades of genetic research. The ability to pinpoint genetic defects responsible for a specific endocrine disorder opens the possibility of faster and simpler diagnosis, improved understanding of disease mechanisms, and development of new treatment modalities. However, the abundance of information attained may be so overwhelming that the practicing physician may be unable to apply this knowledge to the daily routine of clinical practice.

An extensive body of evidence highlights the crucial importance of endocrine genetics. Examples range from human growth disorders and obesity to cancers of the prostate and breast. A pivotal part of the Modern Endocrinology Series, this book presents major biological studies underlining the significance of data obtained from knock-out mice, as well as from transgenic animals. Gene therapy and laboratory evaluation and screening of genetic endocrine diseases are covered, as are many of the classical endocrine diseases.

A multitude of new developments, not only in the rapidly advancing field of molecular genetics and steroid metabolism but in all traditional areas of pediatric endocrinology, have influenced the diagnostic approach in children and adolescents with endocrine disorders, thus warranting this 4th, revised and extended edition of 'Diagnostics of Endocrine Function in Children and Adolescents'. Several chapters have been revised completely and all have been thoroughly updated. In addition, new chapters dealing with the muscle-bone unit and bone metabolism have also been incorporated. The original format of the chapters, which are a combination of in-depth discussion of the diagnostic process, practical conclusions and expert advice based on extensive experience, was maintained. Easy-to-use tables and figures allow for quick reference. Flowcharts of possible diagnostic pathways lead to the most frequent diagnoses. Presenting a broad range of diagnostic approaches, test procedures, and normative data required for establishing diagnoses for a broad spectrum of endocrine disorders, this book is an indispensable reference tool not only for endocrinologists and pediatricians but also for professionals in other specialties seeking evidence-based, rapid diagnostic solutions as the basis of advice and therapy for their patients.

Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.

Traditionally, endocrinology textbooks have been either short notes or multi-author, multi-volume monster, all of which present clinical material last and often only briefly. Endocrinology is different and used real cases to lead readers into the text and then describes the biochemistry, physiology, and anatomy they need to understand the case. The