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Genetic Diagnosis of Endocrine Disorders
2nd Edition - October 9, 2015
Editors: Roy E. Weiss, Samuel Refetoff
Language: English
Hardback ISBN:9780128008928
9 7 8 - 0 - 1 2 - 8 0 0 8 9 2 - 8
eBook ISBN:9780128011348
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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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.
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
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
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
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
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
SR
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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