Syndromes Of Hormone Resistance On The Hypothalamic Pituitary Thyroid Axis

Truly unique cutting edge state of the art information on basic and clinical research. A great help for the clinician to diagnose and treat this uncommon hormone resistance. Basic scientists learn how much has been discovered on the mechanism of hormone action from the mutations of the various genes involved to thyroid hormones and TSH.

Leading clinicians review in depth the clinical and molecular aspects of the hormone resistance syndromes caused by receptor mutations. These mutations are involved in a large number of disorders, including dwarfism, Laron syndrome, pseudohypoparathyroidism, insulin resistance, resistance to thyroid hormone, glucocorticoid resistance, hereditary resistance to vitamin D, and estrogen resistance. Throughout, the book's distinguished contributors not only summarize the clinical features of these and related disorders, but also illuminate their molecular bases. Hormone Resistance Syndromes provides an authoritative summary and standard reference for all those clinicians and researchers actively studying these mutations today and affords a unique opportunity to understand hormone action in normal physiology.

Over recent years, impressive advances in genetic/epigenetic technology have greatly improved the understanding of the pathogenesis of pediatric endocrine diseases due to hormone resistance and hypersensitivity.This book presents reviews of thyroid hormone and thyroid hormone receptor resistance, and genetics and epigenetics of parathyroid hormone resistance. Abnormalities of the pituitary-gonadal axis affecting puberty as well as androgen receptor are covered. Novel insights into the diseases affecting ACTH, glucocorticoid and aldosterone receptors are discussed. Further chapters address new aspects of the physiology of the GH and IGF-1 axis as well as the diseases related to GH-IGF-1 receptor and post-receptor signaling defects. A key chapter on metabolic insights into insulin resistance is also included. Covering clinical and genetic aspects of hormone resistance and hypersensitivity, this book will be a useful tool in the hands of scientists, physicians and other healthcare professionals who wish to be up to date with novel research findings in this area.

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 book is an up-to-date and comprehensive guide to all the common thyroid disorders that may be seen by internists, endocrinologists, nuclear medicine physicians, and endocrine surgeons. While the fundamentals of thyroid hormone function and regulation in health and disease are well covered, the primary focus is on the clinical approach to thyroid disease, with detailed coverage of both initial diagnosis and management and the role of imaging. Because most endocrine diseases are chronic and lifelong, special emphasis is placed on long-term management and the common pitfalls that may be encountered by the clinician. The editors are internationally acknowledged leaders in the field of thyroid disease and have gathered an outstanding team of authors, all of whom are also highly expert in their respective areas, but who, equally importantly, write in a clear and lucid style. The numerous isotope scan and ultrasonographic images ensure that the book will serve as a valuable reference atlas to which the physician will return again and again.

Responding to a renewed interest in the growing problem of iodine deficiency worldwide, Drs. Charles Oxnard and Peter Obendorf, along with experienced translator and anatomist John Dennison, take a fresh look at the classic text, Der endemische Kretinismus, published in 1936 by Springer. Translated here for the first time into English, this landmark text will be a welcome resource for researchers confronting the problem of iodine deficiency. Oxnard and Obendorf point out that there is very little detailed knowledge or numerical data on cretinism available in the English-speaking world. In addition, highly-renowned Professor Basil S. Hetzel, recently-retired World Health Organization Chairman of the International Council for Control of Iodine Deficiency Disorders, published in 2009 with Dr Chen Zu-pei on the resurgence of iodine deficiency in China. Indeed, throughout the entire developing world there may be as many as two billion people at risk to iodine deficiency; perhaps three quarters of a billion have goiter, and ten million may be cretins. Even in developed countries, iodine deficiency is re-emerging (as in New South Wales in 19% of children) with the result of significantly reduced numbers of gifted children (though this is not cretinism per se). Certain to be of significant interest to a wide range of researchers, health providers and professionals, including government health administrators, this English translation of Endemic Cretinism is a major contribution to the literature.

A concise and innovative account of clinical neuroendocrine disorders and the key principles underlying their diagnosis and management.