Genetic Diagnosis of Endocrine Disorders - 2nd Edition - ISBN: 9780128008928, 9780128011348

Genetic Diagnosis of Endocrine Disorders

2nd Edition

Editors: Roy E. Weiss Samuel Refetoff
eBook ISBN: 9780128011348
Hardcover ISBN: 9780128008928
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
      • Introduction
      • Pathophysiology and genetics of specific dyshormonogenesis defects
      • Availability of genetic testing
      • Conclusions
      • Acknowledgment
    • Chapter 8: Developmental Abnormalities of the Thyroid
      • Abstract
      • Introduction
      • TSH receptor gene mutations (loss of function)
      • PAX8 gene mutations
      • TTF1/NKX2-1 gene mutations
      • TTF2 (FOXE 1 or FKHL15) gene mutations
      • GLIS3 gene mutations
      • NKX2-5 gene mutations
      • Syndromes associated with CH from thyroid dysgenesis
      • TSHR gene mutations (gain of function)
      • Treatment
      • Conclusions
    • Chapter 9: Syndromes of Impaired Sensitivity to Thyroid Hormone
      • Abstract
      • Introduction
      • Overview of described and putative defects in syndromes of impaired sensitivity to thyroid hormone
      • Resistance to thyroid hormone (RTH)
      • Thyroid hormone cell transporter defect
      • Thyroid hormone metabolism defect
    • Chapter 10: Molecular Diagnosis of Thyroid Cancer
      • Abstract
      • Introduction
      • Oncogene rearrangements
      • Gene mutations
      • Other genetic alterations
      • Application of molecular findings to the clinical diagnosis of thyroid cancer
      • miRNAs in thyroid lesions
      • Microarray
      • mRNA expression
      • Conclusion
  • V: Parathyroid/bone
    • Chapter 11: Genetics of Hyperparathyroidism Including Parathyroid Cancer
      • Abstract
      • Introduction
      • Hyperparathyroidism-jaw tumor syndrome (HPT-JT), HRPT2, and parathyroid carcinoma
      • Familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT)
      • Autosomal dominant hypoparathyroidism
      • Familial isolated hyperparathyroidism
      • Summary
    • Chapter 12: Genetic Diagnosis of Skeletal Dysplasias
      • Abstract
      • Introduction
      • Sclerosing bone disorders
      • Disorders of defective mineralization
      • Dysplasias of bone and cartilage with normal or low bone mass
    • Chapter 13: Vitamin D Disorders
      • Abstract
      • Introduction
      • Calcium, phosphorus, and vitamin D metabolism
      • Vitamin D deficiency and rickets
      • Genetic causes of rickets – osteomalacia: disorders in vitamin D metabolism and recognition
      • Genetic causes of rickets: hypophosphatemic disorders
      • Genetic causes of hypercalcemia associated with alterations in vitamin D metabolism
  • VI: Adrenal
    • Chapter 14: Congenital Adrenal Hyperplasia
      • Abstract
      • Introduction
      • Genetic pathophysiology
      • Diagnosis: genetic testing and interpretation
      • Treatment
      • Resources
    • Chapter 15: Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes
      • Abstract
      • Introduction
      • Conclusions
      • Acknowledgments
    • Chapter 16: Hereditary Syndromes Involving Pheochromocytoma and Paraganglioma
      • Abstract
      • Multiple endocrine neoplasia type 2
      • Von Hippel–Lindau syndrome (VHL)
      • Neurofibromatosis type 1
      • Hereditary paraganglioma/pheochromocytoma syndromes
      • Genetic risk assessment in patients with apparently sporadic pheochromocytoma
      • Summary
    • Chapter 17: Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance
      • Abstract
      • Introduction
      • Genetics of embryology and function of the adrenal glands
      • Genetic defects causing CAI: an overview and a comment on treatment
      • Specific genetic conditions associated with CAI
      • Genetic conditions associated with resistance to glucocorticoids or mineralocorticoids
      • Acknowledgment
  • VII: Reproductive
    • Chapter 18: Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities
      • Abstract
      • Introduction
      • Ovarian disorders
      • Adrenal disorders
      • Clinical and laboratory evaluation
      • Conclusions
    • Chapter 19: Disorders of Sex Development
      • Abstract
      • Disorders of sex development
      • Disorders of sex determination
      • Disorders of sex differentiation
      • High-throughput sequencing in the diagnosis of disorders of sex determination
      • Conclusions
    • Chapter 20: Androgen Insensitivity Due to Mutations of the Androgen Receptor
      • Abstract
      • Male phenotypic development is controlled by androgens
      • The androgen receptor
      • Measurements of AR and its function
      • The modulation of gene expression by the AR
      • Androgen insensitivity: a spectrum of abnormalities caused by defects of the AR
      • The genetic basis of androgen insensitivity
      • Disruption of the primary amino acid sequence
      • Alterations of the DBD
      • Alterations of LBD structure
      • Mutations within the amino terminus
      • Mutations that cause decreased levels of ligand binding
      • Phenotype and genotype in patients with various forms of androgen insensitivity
      • Spinal and bulbar muscular atrophy and prostate cancer
      • Diagnostic resources
  • VIII: Adipocyte
    • Chapter 21: Obesity
      • Abstract
      • Introduction
      • Genetic pathophysiology
      • Diagnosis genetic testing and interpretation
      • Treatment
    • Chapter 22: Syndromes of Severe Insulin Resistance and/or Lipodystrophy
      • Abstract
      • Introduction
      • Genetic pathophysiology
      • Diagnosis, genetic testing, and interpretation
      • Treatment
    • Chapter 23: Lipodystrophies
      • Abstract
      • Introduction
      • Autosomal recessive lipodystrophies
      • Autosomal dominant lipodystrophies
  • IX: Multisystem disorders
    • Chapter 24: Multiple Endocrine Neoplasia Type 1 (MEN1)
      • Abstract
      • Introduction
      • Genetic pathophysiology of MEN1
      • MEN1 mutation analysis
      • Treatment
      • Recommendations for the future
      • Conclusions
      • Acknowledgment
    • Chapter 25: Genetics of Polyglandular Failure
      • Abstract
      • Definition, incidence, prevalence
      • Clinical spectrum
      • Genetic pathophysiology
      • Diagnosis, genetic testing, and interpretation
      • Management
  • X: Growth
    • Chapter 26: Genetic Diagnosis of Growth Failure
      • Abstract
      • Introduction
      • Genetic pathophysiology
      • Diagnosis: genetic testing and interpretation
      • Treatment
  • XI: Miscellaneous
    • Chapter 27: Cost-Effectiveness of Genetic Testing for Monogenic Diabetes
      • Abstract
      • Cost of diabetes care
      • Heterogeneity of diabetes mellitus
      • Monogenic diabetes
      • Precision medicine in monogenic diabetes
      • Considerations in genetic testing for monogenic diabetes
      • The role of cost-effectiveness analysis in healthcare
      • Cost-effectiveness analysis of monogenic diabetes
      • Future studies of cost-effectiveness analysis in monogenic diabetes
      • Conclusions
    • Chapter 28: Genetic Counseling: The Role of Genetic Counselors on Healthcare Provider and Endocrinology Teams
      • Abstract
      • Introduction
      • The genetic counseling profession
      • The role of genetic counselors on the healthcare provider team
      • The genetic counseling process
      • The pedigree: medicine and art
      • Pedigree analysis and risk perception
      • Summary
    • Chapter 29: Setting Up a Laboratory
      • Abstract
      • Introduction
      • Regulations for diagnostic genetic laboratories
      • The preanalytic phase
      • DNA preparation
      • Analytic phase
      • Methods – general PCR
      • Methods – real-time and digital PCR
      • Methods – microarrays
      • Methods – methylation analysis
      • Methods – sequencing
      • Bioinformatics for NGS
      • Quality assurance for NGS
      • General hardware and software considerations
      • Postanalytic phase
      • Summary
    • Chapter 30: Introduction to Applications of Genomic Sequencing
      • Abstract
      • Overview
      • From human genetics to genomics
      • Excess of rare variation in the human genome
      • Data sharing becomes essential
      • PNPLA6 gene identification – an example for a number of trends in genomics
      • Conclusions
  • Index


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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