Description
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
Table of Contents
1. Mechanisms of Mutation2. A Clinical Guide to Monogenic Diabetes3. Hypoglycemia4. Functioning Pituitary Adenomas5. Diabetes Insipidus6. States of Pituitary Hypofunction7. Congenital Defects of Thyroid Hormone Synthesis8. Developmental Abnormalities of the Thyroid9. Syndromes of Impaired Sensitivity to Thyroid Hormone10. Molecular Diagnosis of Thyroid Cancer11. Genetics of Hyperparathyroidism Including Parathyroid Cancer12. Genetic Diagnosis of Skeletal Dysplasias13. Vitamin D Disorders14. Congenital Adrenal Hyperplasia15. Genetics of Adrenocortical Tumors (ACT)and Hypersecretory Syndromes16. Hereditary Syndromes Involving Pheochromocytoma and Paraganglioma17. Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance18. Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities19. Disorders of Sex Development20. Androgen Insensitivity Due to Mutations of the Androgen Receptor21. Obesity22. Syndromes of Severe Insulin Resistance and/or Lipodystrophy23. Lipodystrophies24. Multiple Endocrine Neoplasia Type 1 (MEN1)25. Genetics of Polyglandular Failure26. Genetic Diagnosis of Growth Failure27. Cost-Effectiveness of Genetic Testing for Monogenic Diabetes28. Genetic Counseling: The Role of GeneticCounselors on Healthcare Providers and Endocrinology Teams29. Setting Up a Laboratory30. Introduction to Applications of Genomic Sequencing
