Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders

1st Edition - April 27, 2010

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  • Editors: Roy E. Weiss, Samuel Refetoff
  • eBook ISBN: 9780080922287

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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 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.

Key Features

  • 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


Clinical and academic endocrinologists; clinical geneticists and genetic counselors; medical libraries; graduate academic libraries.

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


    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 Bertheratnbsp; 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

Product details

  • No. of pages: 336
  • Language: English
  • Copyright: © Academic Press 2010
  • Published: April 27, 2010
  • Imprint: Academic Press
  • eBook ISBN: 9780080922287

About the Editors

Roy E. Weiss

Roy E. Weiss
Dr. Roy Weiss joined the University of Miami Leonard M. Miller School of Medicine as Chairman and the Kathleen and Stanley Glaser Distinguished Chair in Medicine in June 2014. He is also the Rabbi Morris I. Esformes Professor Emeritus at the University of Chicago. Dr. Weiss is an expert in diseases of the thyroid and has described several genetic diseases of the thyroid along with Dr. Samuel Refetoff. Together, they have one of the largest referral centers for genetic thyroid disease in the world. His research centers on the mechanisms of thyroid hormone action at the molecular, physiological, and psychological levels. Dr. Weiss has examined the molecular basis for the syndrome of resistance to thyroid hormone (RTH) as well as other diseases of thyroid hormone action. He has published over 175 papers. He is a fellow in the American College of Physicians, The American College of Endocrinology, and the American Academy of Pediatrics. His research has been supported by the NIH and has received numerous teaching awards. He is the current President of the Central Society for Clinical and Translational Research.

Affiliations and Expertise

Kathleen and Stanley Glaser Distinguished Chair in Medicine and Chairman, Department of Medicine, University of Miami Leonard M. Miller School of Medicine, Miami, FL USA and Rabbi Esformes Professor Emeritus of Medicine, The University of Chicago, Chicago, IL. USA

Samuel Refetoff

Samuel Refetoff
Samuel Refetoff is known for his discovery (1967) of resistance to thyroid hormone (Refetoff Syndrome) and elucidation of its genetic and molecular basis (1989/92). Devoted to the study of inherited thyroid disorders, his laboratory was first to identify mutations in: serum thyroid hormone transport proteins [TBG (1989) and albumin (1994)]; the TSH receptor producing resistance to TSH (1995); and two syndromic thyroid defects combining neuropsychological and thyroid abnormalities caused by mutations in the TTF1 (2002) and the MCT8 (2004) genes. In 2005 his laboratory identified a defect of TH metabolism caused by mutations in the SBP2 gene, which is involved in the synthesis of selenoproteins. A graduate of McGill University, Dr. Refetoff is professor of medicine, pediatrics and genetics at the University of Chicago. He is author of over 500 publications and recipient of numerous national and international prizes, two NIH MERIT awards (1989/2006) and three honorary doctorate degrees.

Affiliations and Expertise

Frederick H. Rawson Professor, Departments of Medicine, Pediatrics and the Committees on Genetics and Molecular Medicine, The University of Chicago, Chicago, IL, USA

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