This text was conceived as a tool to address the problems encountered by an endocrinologist when sureveying the wealth of information available from the past two decades of genetic research. The ability to pinpoint genetic defects responsible for a specific endocrine disorder opens the possibility of faster and simpler diagnosis, improved understanding of disease mechanisms, and development of new treatment modalities. However, the abundance of information attained may be so overwhelming that the practicing physician may be unable to apply this knowledge to the daily routine of clinical practice. This book provides a concise summary of the most current information available on over 100 endocrine diseases, organized as a rapid reference guide. The text also provides references for review articles and other citations from current medical journals. Furthermore, the reader can consult the OMIM website, using the MIM numbers listed for each specific disease. The diagrams of metabolic pathways provide summaries for medical students, endocrine fellows, as well as senior physicians.
The glossary of genetic terminology can serve asan introduction to the language of genetics, and also act as a mini-reference dictionary.