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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© 2016
Academic Press
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