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Genetic diagnosis of endocrine disorders

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Genetic diagnosis of endocrine disorders/ edited by Roy E. Weiss, Samuel Refetoff.
other author:	Weiss, Roy E.
Published:	Amsterdam ;Academic Press/Elsevier, : 2010.,
Description:	x, 323 p., [8] p. of plates :ill. (some col.) ; : 29 cm.;
Subject:	Endocrine glands - Diseases -
Online resource:	An electronic book accessible through the World Wide Web; click for information
ISBN:	9780123744302

Genetic diagnosis of endocrine disorders
Genetic diagnosis of endocrine disorders[electronic resource] /edited by Roy E. Weiss, Samuel Refetoff. - 1st ed. - Amsterdam ;Academic Press/Elsevier,2010. - x, 323 p., [8] p. of plates :ill. (some col.) ;29 cm.

Includes bibliographical references and index.

Mechanisms of Mutation -- Section 2: Pancreas -- Genetic Testing in Diabetes Mellitus: A Clinical Guide to Monogenic Diabetes -- Obesity -- Syndromes of Severe Insulin Resistance and/or Lipodystrophy -- Section 3: Pituitary -- Functioning Pituitary Adenomas -- Diabetes Insipidus -- States of Pituitary Hypofunction -- Section 4: 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 -- Section 5: Parathyroid and Bone -- Genetics of Hyperparathyroidism Including Parathyroid Cancer -- Genetic Diagnosis of Skeletal Dysplasias -- Vitamin D Disorders -- Section 6: 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 -- Section 7: 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 -- Section 8: Multisystem Disorders -- Multiple Endocrine Neoplasia Type 1 (MEN1) -- Genetics of Polyglandular Failure -- Section 9: Growth -- Genetic Diagnosis of Growth Failure -- Section 10: Counseling and Laboratory -- Genetic Counseling -- Setting up a Laboratory.

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.

Electronic reproduction.
Amsterdam :
Elsevier Science & Technology,
2010.

Mode of access: World Wide Web.

ISBN: 9780123744302

Source: 152886:153041Elsevier Science & Technologyhttp://www.sciencedirect.comSubjects--Topical Terms:

791395
Endocrine glands
--DiseasesIndex Terms--Genre/Form:

554714
Electronic books.

LC Class. No.: RC648 / .G46 2010

Dewey Class. No.: 616.4042

Genetic diagnosis of endocrine disorders
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245 0 0 $a Genetic diagnosis of endocrine disorders $h [electronic resource] / $c edited by Roy E. Weiss, Samuel Refetoff.
250 $a 1st ed.
260 $a Amsterdam ; $a Boston : $b Academic Press/Elsevier, $c 2010.
300 $a x, 323 p., [8] p. of plates : $b ill. (some col.) ; $c 29 cm.
504 $a Includes bibliographical references and index.
505 0 $a Mechanisms of Mutation -- Section 2: Pancreas -- Genetic Testing in Diabetes Mellitus: A Clinical Guide to Monogenic Diabetes -- Obesity -- Syndromes of Severe Insulin Resistance and/or Lipodystrophy -- Section 3: Pituitary -- Functioning Pituitary Adenomas -- Diabetes Insipidus -- States of Pituitary Hypofunction -- Section 4: 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 -- Section 5: Parathyroid and Bone -- Genetics of Hyperparathyroidism Including Parathyroid Cancer -- Genetic Diagnosis of Skeletal Dysplasias -- Vitamin D Disorders -- Section 6: 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 -- Section 7: 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 -- Section 8: Multisystem Disorders -- Multiple Endocrine Neoplasia Type 1 (MEN1) -- Genetics of Polyglandular Failure -- Section 9: Growth -- Genetic Diagnosis of Growth Failure -- Section 10: Counseling and Laboratory -- Genetic Counseling -- Setting up a Laboratory.
520 $a 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.
533 $a Electronic reproduction. $b Amsterdam : $c Elsevier Science & Technology, $d 2010. $n Mode of access: World Wide Web. $n System requirements: Web browser. $n Title from title screen (viewed on June 18, 2010). $n Access may be restricted to users at subscribing institutions.
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650 0 $a Endocrine glands $x Diseases $x Diagnosis. $3 791396
650 0 $a Endocrine glands $x Diseases $x Treatment. $3 791397
655 7 $a Electronic books. $2 local $3 554714
700 1 $a Weiss, Roy E. $3 791393
700 1 $a Refetoff, Samuel. $3 791394
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