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.

Pheochromocytomas are rare but treacherous catecholamine-producing tumors, which if missed or not properly treated, will almost invariably prove fatal. Prompt diagnosis is, therefore, essential for effective treatment, usually by surgical resection. The manifestations are diverse and the tumor can mimic a variety of conditions, often resulting in either erroneous diagnoses or a delayed diagnosis. Reflecting the recent leaps in understanding this condition, Pheochromocytoma: Diagnosis, Localization, and Treatment provides a comprehensive update on the improvements in the diagnosis, localization, management and treatment of pheochromocytomas – providing you with the latest cutting edge science alongside best clinical practice. Written by the leading names in the field, the text details the significant developments in understanding the genetics and biology of the tumors, coupled with technological advances in the fields of analytical chemistry, genomics, molecular biology and nuclear medicine. The most comprehensive book on pheochromocytoma Provides cutting edge science and clinical guidance Written by the leading names in the field Authors present their recently developed novel biochemical test for the diagnosis of Pheochromocytoma

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

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.

From 11 to 15 July 1977 about 60 physiologists, endo crinologists, ecologists and other biologists from 14 countries convened at the University Montpellier for a symposium on Environmental Endocrinology. This meet ing was organized as a Satellite Symposium of the 27th International Congress of Physiological Sciences, Paris, 18-23 July 1977. This volume is a record of the com munications presented at the symposium. The objectives of the program were to examine the role of the endocrine system in a wide spectrum of adjustments and adaptations to changes in environmental conditions by various spe cies of animals, including man, and to promote an ex change of ideas among investigators who have approached these functions from diverse aspects. The diversity of the information and ideas communicated is great. Of necessity, they represent only an extremely modest se lection of the many facets of endocrine function in the interaction of animals with their environments. Be yond the usefulness of the communications individually, we hope that they collectively demonstrate the substan tial heuristic value of the concept of environmental endocrinology as it was perceived by the participants. We acknowledge gratefully the kindness and sympathy of Professor Jaques ROUZAUD, President of the University of Montpellier II, for his generous extension of the hospitality of the University to the Symposium. We are most grateful to Mrs. Monique VIEU who effected so well the secretarial organization of the Sympos.

A much-needed comprehensive resource, Endocrine Pathology covers clinical, radiologic, biochemical, molecular, cytogenetic, immunologic and histopathologic aspects of endocrine disorders, including the full spectrum of both neoplastic and non-neoplastic lesions. The first section of the book provides an overview of the clinical presentations of endocrine diseases, while the second section reviews the wide variety of investigative techniques used in their diagnosis. The third and largest section provides a comprehensive tissue- and organ-based approach to the diagnosis of endocrine disorders, including morphologic, genetic and proteomic features with clinicopathologic correlations. All chapters are richly illustrated with numerous color images, tables and algorithms, and the book is packaged with a password, giving the user online access to all text and images. Written and edited by the world's leading experts, this comprehensive and up-to-date book is the definitive resource on endocrine pathology for all pathologists, endocrinologists and researchers.