Wow! eBook
Genetic Diagnosis of Endocrine Disorders 2nd Edition
Author(s): Roy E. Weiss MD PhD FACP FACE Dr. (Author, Editor), Samuel Refetoff MD Dr.
- Publisher: Academic Press
- Publication Date: 23 Oct. 2015
- Edition: 2nd
- Language: English
- Print length: 472 pages
- ISBN-10: 012800892X
- ISBN-13: 9780128008928
Book 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
Editorial Reviews
Review
About the Author
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.
