Full 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.
Contents
1. Mechanisms of Mutation
2. A Clinical Guide to Monogenic Diabetes
3. Hypoglycemia
4. Functioning Pituitary Adenomas
5. Diabetes Insipidus
6. States of Pituitary Hypofunction
7. Congenital Defects of Thyroid Hormone Synthesis
8. Developmental Abnormalities of the Thyroid
9. Syndromes of Impaired Sensitivity to Thyroid Hormone
10. Molecular Diagnosis of Thyroid Cancer
11. Genetics of Hyperparathyroidism Including Parathyroid Cancer
12. Genetic Diagnosis of Skeletal Dysplasias
13. Vitamin D Disorders
14. Congenital Adrenal Hyperplasia
15. Genetics of Adrenocortical Tumors (ACT)and Hypersecretory Syndromes
16. Hereditary Syndromes Involving Pheochromocytoma and Paraganglioma
17. Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance
18. Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities
19. Disorders of Sex Development
20. Androgen Insensitivity Due to Mutations of the Androgen Receptor
21. Obesity
22. Syndromes of Severe Insulin Resistance and/or Lipodystrophy
23. Lipodystrophies
24. Multiple Endocrine Neoplasia Type 1 (MEN1)
25. Genetics of Polyglandular Failure
26. Genetic Diagnosis of Growth Failure
27. Cost-Effectiveness of Genetic Testing for Monogenic Diabetes
28. Genetic Counseling: The Role of Genetic
Counselors on Healthcare Providers and Endocrinology Teams
29. Setting Up a Laboratory
30. Introduction to Applications of Genomic Sequencing
