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Genetic Diagnosis of Endocrine Disorders
- 2nd Edition - October 9, 2015
- Editors: Roy E. Weiss, Samuel Refetoff
- Language: English
- Hardback ISBN:9 7 8 - 0 - 1 2 - 8 0 0 8 9 2 - 8
- eBook ISBN:9 7 8 - 0 - 1 2 - 8 0 1 1 3 4 - 8
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyro… Read more
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Request a sales quoteGenetic 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.
- 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
- 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
- Chapter 1: Mechanisms of Mutation
- 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
- Chapter 2: A Clinical Guide to Monogenic Diabetes
- 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
- Chapter 4: Functioning Pituitary Adenomas
- 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
- Chapter 7: Congenital Defects of Thyroid Hormone Synthesis
- 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
- Chapter 11: Genetics of Hyperparathyroidism Including Parathyroid Cancer
- 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
- Chapter 14: Congenital Adrenal Hyperplasia
- 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
- Chapter 18: Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities
- 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
- Chapter 21: Obesity
- 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
- Chapter 24: Multiple Endocrine Neoplasia Type 1 (MEN1)
- X: Growth
- Chapter 26: Genetic Diagnosis of Growth Failure
- Abstract
- Introduction
- Genetic pathophysiology
- Diagnosis: genetic testing and interpretation
- Treatment
- Chapter 26: Genetic Diagnosis of Growth Failure
- 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
- Chapter 27: Cost-Effectiveness of Genetic Testing for Monogenic Diabetes
- Index
- No. of pages: 472
- Language: English
- Edition: 2
- Published: October 9, 2015
- Imprint: Academic Press
- Hardback ISBN: 9780128008928
- eBook ISBN: 9780128011348
RW
Roy E. Weiss
SR