Genetic Diagnosis of Endocrine Disorders by Roy E. Weiss, MD, PhD, FACP, FACEGenetic Diagnosis of Endocrine Disorders by Roy E. Weiss, MD, PhD, FACP, FACE

Genetic Diagnosis of Endocrine Disorders

byRoy E. Weiss, MD, PhD, FACP, FACE, Roy E. Weiss, Samuel Refetoff, MD

Other | June 3, 2010

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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.

  • Selected for inclusion in Doody's Core Titles 2013, an essential collection development tool for health sciences libraries
  • 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
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 (19...
Title:Genetic Diagnosis of Endocrine DisordersFormat:OtherDimensions:336 pages, 1 × 1 × 1 inPublished:June 3, 2010Publisher:Elsevier ScienceLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0080922287

ISBN - 13:9780080922287

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Table of Contents

Type 1 Diabetes Mellitus
Type 2 - Diabetes Mellitus
Growth Hormones
Functional Adenomas
Posterior Pituitary
Congenital Hypothyroidism
Resistance Syndromes
Thyroid Cancer
Parathyroid and Bone
Metabolic Bone Diseases
Vitamin D Disorders
Congenital Adrenal Hyperplasias
Adrenal tumors and cancers
Pheos and MEN II
Ovarian Disease
Sexual Differentiation and Puberty
Genetic Counseling for the Endocrinologists
Pharmacogenomics and Endocrine Disease
Setting up an Endocrine Genetic Laboratory
Tables of Oligos and Diseases