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Libreria medica internazionale
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Genetic Diagnosis of Endocrine Disorders
Weiss, Refetoff
80,00 €
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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:


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


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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