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Genetic Diagnosis Of Endocrine Disorders

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Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders Book
Author : Roy E. Weiss,Samuel Refetoff
Publisher : Academic Press
Release : 2015-10-09
ISBN : 0128011343
Language : En, Es, Fr & De

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Book Description :

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

Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders Book
Author : Roy E. Weiss,Samuel Refetoff
Publisher : Academic Press
Release : 2010-06-03
ISBN : 9780080922287
Language : En, Es, Fr & De

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Book Description :

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

Genetics in Endocrinology

Genetics in Endocrinology Book
Author : John D. Baxter,Shlomo Melmed,Maria I. New
Publisher : Lippincott Raven
Release : 2002
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Genetics of Endocrine Diseases and Syndromes

Genetics of Endocrine Diseases and Syndromes Book
Author : Peter Igaz,Attila Patócs
Publisher : Springer Nature
Release : 2019-10-06
ISBN : 3030259056
Language : En, Es, Fr & De

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Book Description :

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.

Diagnostic Pathology Endocrine E Book

Diagnostic Pathology  Endocrine E Book Book
Author : Vania Nosé
Publisher : Elsevier Health Sciences
Release : 2019-04-09
ISBN : 0323554660
Language : En, Es, Fr & De

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Book Description :

Part of the highly regarded Diagnostic Pathology series, this updated volume by Dr. Vania Nosé is a visually stunning, easy-to-use reference covering 125 of the most common endocrine pathology diagnoses. Outstanding images—more than 2,400 in all—make this an invaluable diagnostic aid for every practicing pathologist, resident, or fellow. This second edition incorporates the most recent clinical, pathological, histological, and molecular knowledge in the field to provide a comprehensive overview of all key issues relevant to today’s practice. Essential knowledge in all areas of endocrine pathology, including thyroid, parathyroid, pituitary, adrenal, pancreas, skin, and inherited tumor syndromes Unsurpassed visual coverage with more than 2,400 carefully annotated clinical images, gross pathology, histology, and special and immunohistochemical stains that provide clinically and diagnostically important information on typical and variant disease features Designed to help you identify crucial elements of each diagnosis along with associated differential diagnoses and pitfalls to more quickly resolve problems during routine sign out of cases Time-saving reference features include bulleted text, a variety of test data tables, key facts in each chapter, annotated images, and an extensive index Thoroughly updated content throughout, reflecting new WHO classifications for endocrine diseases, recently discovered and newly described endocrine disease entities and genetic causes, and treatment changes of endocrine diseases New coverage of encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC), with a new chapter on the new entity NIFTP, new genetic discoveries in the development of pheochromocytoma and paragangliomas, new names that demonstrate the differentiation of certain tumors, and new information on immunoglobulin G4-related disease (IgG4-RD) involving thyroid

Epidemiology of Endocrine Tumors

Epidemiology of Endocrine Tumors Book
Author : Jahangir Moini,Craig Badolato,Raheleh Ahangari
Publisher : Elsevier
Release : 2021-02-17
ISBN : 0128232668
Language : En, Es, Fr & De

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Book Description :

Epidemiology of Endocrine Tumors brings current data and clinical research into one source for a multidisciplinary audience. The book discusses the prevalence, incidence, etiology, pathology, diagnosis and treatment of various endocrine tumors. With clear and focused writing, it is essential reading for healthcare professionals, endocrinologists, oncologists, and public health professionals. Users will be able to bridge the knowledge gap that exists in the comprehensive coverage surrounding the epidemiology of endocrine tumors. Globally, the prevalence and incidence of endocrine tumors is high. This audience needs a treatise where they can gain a broad overview of endocrine tumors with a focus on epidemiology. Supplies information about the epidemiology of various endocrine tumors, both benign and malignant, to endocrinologists, oncologists and related health care professionals Focuses on the impact upon costs and patient deaths due to complications of these tumors Describes how endocrine tumors affect various age groups and ethnicities, discussing the prevention of endocrine tumors Presents chapters on Cancer Problem, Specific Endocrine Tumors, Prevention, Detection and Diagnosis, and Treatment of Endocrine Tumors Provides review questions with an answer key and detailed glossary

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease Book
Author : Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
Publisher : Academic Press
Release : 2012-12-31
ISBN : 0123878306
Language : En, Es, Fr & De

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Book Description :

This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder. Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles. Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.

Diagnosis and Treatment in Internal Medicine

Diagnosis and Treatment in Internal Medicine Book
Author : Patrick Davey,David Sprigings
Publisher : Oxford University Press
Release : 2018-08-30
ISBN : 019956874X
Language : En, Es, Fr & De

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Book Description :

Diagnosis and Treatment in Internal Medicine equips trainee doctors with the essential skills and core knowledge to establish a diagnosis reliably and quickly, before outlining the management of the clinical condition diagnosed. Organised into three sections, the first provides a vital overview, whilst the second focuses on common presentations and diagnoses. Uniquely, this new book shows readers how to turn symptoms into a list of diagnoses ordered by probability - a differential diagnosis. Experienced consultants who teach trainees every day demonstrate how to derive an ordered differential diagnosis, how to narrow this down to a single diagnosis and if not, how to live with diagnostic uncertainty. The final section provides a comprehensive account of the management of system-based syndromes and diseases. Highly-structured chapters emphasize how common conditions present, how to approach a diagnosis, and how to estimate prognosis, treatment and its effectiveness. An onus is placed on the development of crucial diagnostic skills and the ability to devise evidence-based management plans quickly and accurately, making this an ideal text for core medical trainees.

Polyendocrine Disorders and Endocrine Neoplastic Syndromes

Polyendocrine Disorders and Endocrine Neoplastic Syndromes Book
Author : Annamaria Colao,Marie-Lise Jaffrain-Rea,Albert Beckers
Publisher : Springer
Release : 2021-08-11
ISBN : 9783319894966
Language : En, Es, Fr & De

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Book Description :

This comprehensive reference book is meant to support clinicians in the diagnosis and treatment of polyendocrine diseases and endocrine neoplastic syndromes. Although a large majority of endocrine diseases present as sporadic cases, an increasing proportion can be identified as part of a polyendocrine or systemic syndrome. These include autoimmune endocrine diseases, which may be part of autoimmune polyendocrine disorders (APS) or rare complex disorders such as POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) or IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. On the other hand, endocrine tumors may develop in a variety of clinical conditions, including multiple endocrine neoplasia (MEN) syndromes, syndromic diseases such as McCune Albright or Carney’s complex, or peculiar familial associations such as pheochromocytoma/paraganglioma syndromes. The book discusses the significant advances that have been made in the clinical and genetic characterization of such entities, with major implications in terms of diagnosis and clinical management - with special attention to emerging syndromes, familial screening , multidisciplinarity and multimodal treatment. This volume is intended for clinicians, residents, specialists and physicians involved in the diagnosis and treatment of affected patients, including specialists in endocrinology, internal medicine, oncology , genetics and imaging.

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics Book
Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publisher : Academic Press
Release : 2020-04-10
ISBN : 0128173459
Language : En, Es, Fr & De

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Book Description :

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Cutaneous Manifestations of Endocrine Diseases

Cutaneous Manifestations of Endocrine Diseases Book
Author : Walter K.H. Krause
Publisher : Springer Science & Business Media
Release : 2008-11-30
ISBN : 3540883673
Language : En, Es, Fr & De

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Book Description :

Skin lesions are often the first sign for an endocrine disease. Their description is thus of relevance for early diagnosis and treatment of endocrine disease for specialists in endocrinology as well as in dermatology. Lavishly illustrated, this book describes the clinical and histological features of skin lesions observed in endocrine diseases. All features are reader-friendly structured and written in the language of dermatologists in order to enable a simple association between the features observed and the endocrine etiology.

Genetics of Endocrine Disorders An Issue of Endocrinology and Metabolism Clinics of North America E Book

Genetics of Endocrine Disorders  An Issue of Endocrinology and Metabolism Clinics of North America E Book Book
Author : Constantine A. Stratakis
Publisher : Elsevier Health Sciences
Release : 2017-05-11
ISBN : 0323530060
Language : En, Es, Fr & De

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Book Description :

This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.

Endocrinology

Endocrinology Book
Author : S.S. Nussey,S.A. Whitehead
Publisher : CRC Press
Release : 2001-06-15
ISBN : 9780203450437
Language : En, Es, Fr & De

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Book Description :

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

Developmental Endocrinology

Developmental Endocrinology Book
Author : Erica A. Eugster,Ora Hirsch Pescovitz
Publisher : Springer Science & Business Media
Release : 2002-03-04
ISBN : 1592591566
Language : En, Es, Fr & De

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Book Description :

Leading researchers comprehensively translate all the latest scientific information regarding endocrine physiology and development into an understanding of the clinical pathogenesis, diagnosis, and treatment of endocrine disease. Organized by endocrine system, each section of the book concisely describes the chronological development of the human organism, from the fetal/prenatal period through childhood, adolescence, and in some cases, into adulthood. The prenatal sections review recent discoveries concerning transcription factors, homeobox genes, and human molecular mutations-the basic processes governing prenatal development of the individual endocrine organs-and detail the pathophysiology, clinical characteristics, and treatment of pediatric endocrine disorders.

Endocrine Diseases of Newborn Epidemiology Pathogenesis Therapeutic Option and Outcome

Endocrine Diseases of Newborn  Epidemiology  Pathogenesis  Therapeutic Option and Outcome Book
Author : Amanda Lesley Ogilvy-Stuart,Paula Caroline Midgley
Publisher : Frontiers Media SA
Release : 2021-11-10
ISBN : 2889716201
Language : En, Es, Fr & De

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Book Description :

Download Endocrine Diseases of Newborn Epidemiology Pathogenesis Therapeutic Option and Outcome book written by Amanda Lesley Ogilvy-Stuart,Paula Caroline Midgley, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Endocrine Hypertension

Endocrine Hypertension Book
Author : Karel Pacak,Graeme Eisenhofer
Publisher : Unknown
Release : 2002
ISBN : 9781573314183
Language : En, Es, Fr & De

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Book Description :

Several genetic, biochemical and radiologic discoveries have impacted the management of endocrine hypertension, while surgical procedures have revolutionized treatment of patients with endocrine hypertension. This text contains the proceedings of a 2001 workshop on the topic.

Pheochromocytoma

Pheochromocytoma Book
Author : Karel Pacak,Graeme Eisenhofer,Jacques Lenders
Publisher : John Wiley & Sons
Release : 2008-04-15
ISBN : 0470766387
Language : En, Es, Fr & De

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Book Description :

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

The Fragile X Associated Tremor Ataxia Syndrome FXTAS

The Fragile X Associated Tremor Ataxia Syndrome  FXTAS  Book
Author : Flora Tassone,Elizabeth M. Berry-Kravis
Publisher : Springer Science & Business Media
Release : 2010-06-02
ISBN : 9781441958051
Language : En, Es, Fr & De

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Book Description :

In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

Gigantism and Acromegaly

Gigantism and Acromegaly Book
Author : Constantine A. Stratakis
Publisher : Elsevier
Release : 2021-06-09
ISBN : 0128145374
Language : En, Es, Fr & De

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Book Description :

Gigantism and Acromegaly brings together pituitary experts, taking readers from bench research, to genetic analysis, clinical analysis, and new therapeutic approaches. This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists. Pharmaceutical companies may use it as a reference for drug development and research. Students, residents and fellows in medicine and endocrinology and genetics will also find it valuable as it provides a single up-to-date review of the molecular biology of gigantism and acromegaly as well as recommended approaches to evaluation and management. Acromegaly is a rare pituitary disorder that slowly changes its adult victim's appearance over time: larger hands and feet, bigger jaw, forehead, nose, and lips. Generally, a benign pituitary tumor is the cause and symptoms of acromegaly can vary from patient to patient, making a diagnosis difficult and prolonging suffering for years. Early detection is key in the management of acromegaly as the pathologic effects of increased growth hormone (GH) production are progressive and can be life-threatening as the result of associated cardiovascular, cerebrovascular, and respiratory disorders and malignancies. Accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of acromegaly and gigantism Provides a unique compendium of endocrinology, genetics, clinical diagnosis and therapeutics Contains contributions from internationally known experts who have treated patients with acromegaly and gigantism

Diagnostics of Endocrine Function in Children and Adolescents

Diagnostics of Endocrine Function in Children and Adolescents Book
Author : Michael B. Ranke,P.-E. Mullis
Publisher : Karger Medical and Scientific Publishers
Release : 2011
ISBN : 3805594143
Language : En, Es, Fr & De

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Book Description :

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.