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Punto di Riferimento
per Medici e Operatori Sanitari
per Medici e Operatori Sanitari
LIBRERIA STUDIUM
Genetic Diagnosis of Endocrine Disorders
Weiss, Refetoff
Editore
Elsevier
Anno
2010
Pagine
331
ISBN
9780123744302
80,00 €
| 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 will present the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It will be 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 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. |
| Author Info | |
| Edited by Roy E. Weiss, Roy E. Weiss, MD, PhD, FACP, FACE, Rabbi Morris I. Esformes Professor; Chief of Ault and Pediatric Endocrinology, Diabetes, and Metabolism, Departments of Medicine an Pediatrics, The University of Chicago, Chicago, IL, USA and Samuel Refetoff, Samuel Refetoff, MD, Frederick Rawson Professor, Departments of Medicine, Pediatrics and the Committees on Genetics and Molecular Medicine, The University of Chicago, Chicago, IL, USA |
Table of Contents:
Preface
Section 1: Introduction
Chapter 1
Mechanisms of Mutation
Bernard S. Strauss
Section 2: Pancreas
Chapter 2
Genetic Testing in Diabetes Mellitus: A Clinical Guide to Monogenic Diabetes
Louis H. Philipson, Rinki Murphy, Sian Ellard, Andrew T. Hattersley, Julie Støy, Siri A. Greeley, Graeme I. Bell and Kenneth S. Polonsky
Chapter 3
Obesity
Beatrice Dubern, Patrick Tounian, and Karine Clément
Chapter 4
Syndromes of Severe Insulin Resistance and/or Lipodystrophy
Robert K. Semple, David B. Savage, David J. Halsall, and Stephen O’Rahilly
Section 3: Pituitary
Chapter 5
Functioning Pituitary Adenomas
Albert Beckers and Adrian F. Daly
Chapter 6
Diabetes Insipidus
Soren Rittig and Jane H. Christensen
Chapter 7
States of Pituitary Hypofunction
Christopher J. Romero and Sally Radovick
Section 4: Thyroid
Chapter 8
Congenital Defects of Thyroid Hormone Synthesis
Helmut Grasberger and Samuel Refetoff
Chapter 9
Developmental Abnormalities of the Thyroid
Joachim Pohlenz and Guy Van Vliet
Chapter 10
Syndromes of Reduced Sensitivity to Thyroid Hormone
Roy E Weiss, Alexandra M. Dumitrescu and Samuel Refetoff
Chapter 11
Molecular Genetics of Thyroid Cancer: Pathogenetic Significance and Clinical Applications
Nicholas Mitsiades and James A. Fagin
Section 5: Parathyroid and Bone
Chapter 12
Genetics of Hyperparathyroidism Including Parathyroid Cancer
Andrew Arnold and Kelly Lauter
Chapter 13
Genetic Diagnosis of Skeletal Dysplasias
Benjamin Alman
Chapter 14
Vitamin D Disorders
Michael F. Holick
Section 6: Adrenal
Chapter 15
Congenital Adrenal Hyperplasia
Saroj Nimkarn and Maria I. New
Chapter 16
Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes
Rossella Libé , Lionel Groussin, Jérôme Bertherat and Xavier Bertagna
Chapter 17
Hereditary Pheochromocytoma and Multiple Endocrine Neoplasia type 2 (MEN2)
Thereasa A. Rich, Camilo Jimenez and Douglas B. Evans
Chapter 18
Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance
Constantine A. Stratakis
Section 7: Reproductive
Chapter 19
Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities
Leslie Hoffman and David A. Ehrmann
Chapter 20
Genetic Diagnosis of Hypogonadotropic Hypogonadism and Kallmann Syndrome
Lawrence C. Layman
Chapter 21
Disorders of Sex Development
Valerie A. Arboleda, Alice A. Fleming and Eric Vilain
Chapter 22
Genetic Defects of Androgen Resistance
Kenan Qin
Section 8: Multisystem Disorders
Chapter 23
Multiple Endocrine Neoplasia Type 1 (MEN1)
Cornelis J.M. Lips, Koen M.A. Dreijerink, Rob B. van der Luijt, Bernadette P.M. van Nesselrooij and Jo W.M. Höppener
Chapter 24
Genetics of Polyglandular Failure
Manuela Dittmar and George J. Kahaly
Section 9: Growth
Chapter 25
Genetic Diagnosis of Growth Failure
Ron G. Rosenfeld and Vivian Hwa
Section 10: Counseling and Laboratory
Chapter 26
Genetic Counseling
Shelly Cummings
Chapter 27
Setting up a Laboratory
Loren J. Joseph
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