Genetic Diagnosis of Endocrine Disorders

Roy E Weiss, Samuel Refetoff

Research output: Book/ReportBook

1 Scopus citations


Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia? The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists, pediatricians and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases. Features: * Presents a comprehensive, translational look at all aspects of genetic diagnosis of endocrine disorders in one reference work. * Endocrinology experts (the researchers who discovered the majority of the gene mutations for a particular disease) teach readers about the molecular basis for diseases in each major endocrine organ system * Clear presentation by geneticists of pharmacogenetics and the actual assays used in detecting endocrine diseases * Genetic counselors offer expert advice on how to use genetic information in counseling patients Benefits: * Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose endocrine diseases * Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles. Correct diagnosis (and therefore correct treatment) of endocrine diseases depends on a strong understanding of the molecular basis for the disease - both endocrinologists and geneticists will benefit * Endocrinologists will learn which genetic tests to ask for and which genes should be evaluated for each specific endocrine disease * Endocrinologists will gain insight into which medications to use based on the genetic make-up of a patient * Endocrinologists and geneticists will learn the best strategies and most effective use of genetic information in the patient counselling setting - not something that is taught in most medical or graduate schools.

Original languageEnglish (US)
PublisherElsevier Inc.
ISBN (Print)9780123744302
StatePublished - 2010
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)
  • Dentistry(all)


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