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Genetic diagnosis of endocrine disorders

Author: Roy E Weiss; Samuel Refetoff
Publisher: Amsterdam : Academic, ©2010.
Edition/Format:   Print book : EnglishView all editions and formats
Summary:
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  Read more...
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Document Type: Book
All Authors / Contributors: Roy E Weiss; Samuel Refetoff
ISBN: 9780123744302 012374430X
OCLC Number: 491935059
Awards: Winner of Doody's Core Titles 2013 2013
Description: x, 323 pages [8] pages of color plates : illustrations ; 29 cm
Contents: Mechanisms of mutation --
Pancreas --
Genetic testing in diabetes mellitus: a clinical guide to monogenic diabetes --
Obesity --
Syndromes of severe insulin resistance and/or lipodystrophy --
Pituitary --
Functioning pituitary adenomas --
Diabetes insipidus --
States of pituitary hypofunction --
Thyroid --
Congenital defects of thyroid hormone synthesis --
Developmental abnormalities of the thyroid --
Syndromes of reduced sensitivity to thyroid hormone --
Molecular genetics of thyroid cancer: pathogenetic significance and clinical applications --
Parathyroid and bone --
Genetics of hyperparathyroidism including parathyroid cancer --
Genetic diagnosis of skeletal dysplasias --
Vitamin D disorders --
Adrenal --
Congenital adrenal hyperplasia --
Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes --
Hereditary pheochromocytoma and multiple endocrine neoplasia type 2 (MEN2) --
Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance --
Reproductive --
Genetic considerations in the evaluation of menstrual cycle irregularities --
Genetic diagnosis of hypogonadotropic hypogonadism and Kallmann syndrome --
Disorders of sex development --
Genetic defects of androgen resistance --
Multisystem disorders --
Multiple endocrine neoplasia type 1 (MEN1) --
Genetics of polyglandular failure --
Growth --
Genetic diagnosis of growth failure --
Counseling and laboratory --
Genetic counseling --
Setting up a laboratory.
Responsibility: edited by Roy E. Weiss, Samuel Refetoff.

Abstract:

Since the beginning of the century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. This book presents the "bench to bedside" approach of our  Read more...

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"In the era of molecular medicine, understanding the genetic basis of disease is at the core. Nowhere is this more applicable than in endocrinology, where the genetic basis of disease underpins its Read more...

 
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