Genetic Diagnosis of Endocrine Disorders

2nd Edition

Editors: Roy E. Weiss Samuel Refetoff
Hardcover ISBN: 9780128008928
eBook ISBN: 9780128011348
Imprint: Academic Press
Published Date: 23rd October 2015
Page Count: 472
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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.

Key Features

  • 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


Biomedical researchers in endocrinology and medical genetics, clinical endocrinologists, clinical geneticists, and genetic counselors

Table of Contents

  • List of Contributors
  • Preface to the First Edition
  • Preface to the Second Edition
  • I: Introduction

    • Chapter 1: Mechanisms of Mutation

      • Abstract
      • Introduction
      • The types of mutation
      • The mechanisms of mutation
      • The role of technology
      • Double-strand break repair-related mechanisms
      • Mobile insertion elements
      • The human mutation rate
      • The phenotypic effect of mutations
      • Conclusion and summary
  • II: Pancreas

    • Chapter 2: A Clinical Guide to Monogenic Diabetes

      • Abstract
      • Introduction
      • Clinical presentation
      • Genetic testing
      • Conclusions
    • Chapter 3: Hypoglycemia

      • Abstract
      • Introduction
      • Genetic pathophysiology
      • Summary
  • III: Pituitary

    • Chapter 4: Functioning Pituitary Adenomas

      • Abstract
      • Introduction
      • Genetic pathophysiology of pituitary adenomas
      • Genetic screening in functioning pituitary adenomas
      • MEN1
      • MEN1-related pituitary tumors
      • Carney complex (CNC)
      • Multiple endocrine neoplasia 4 (MEN4)
      • Familial isolated pituitary adenomas (FIPA)
    • Chapter 5: Diabetes Insipidus

      • Abstract
      • Introduction
      • Types of diabetes insipidus
      • Familial types of diabetes insipidus
      • Clinical diagnosis
      • Genetic testing
    • Chapter 6: States of Pituitary Hypofunction

      • Abstract
      • Introduction
      • Genetic pathophysiology
      • Diagnosis, genetic testing, and interpretation
      • Treatment
  • IV: Thyroid

    • Chapter 7: Congenital Defects of Thyroid Hormone Synthesis

      • Abstract
      • Introduc


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About the Editor

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 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