Genetic Diagnosis of Endocrine Disorders. Edition No. 2

Table of 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

Authors

Roy E. Weiss 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. 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. Samuel Refetoff Frederick H. Rawson Professor, Departments of Medicine, Pediatrics and the Committees on Genetics and Molecular Medicine, The University of Chicago, Chicago, IL, USA. 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.