Genetic Diagnosis of Endocrine Disorders

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.





Readership
Clinical and academic endocrinologists; clinical geneticists and genetic counselors; internists; pediatricians; medical libraries; graduate academic libraries.

Table of Contents

Preface


Section 1: Introduction


Chapter 1

Mechanisms of Mutation

Bernard S. Strauss


Section 2: Pancreas


Chapter 2

Genetic Testing in Diabetes Mellitus: A Clinical Guide to Monogenic Diabetes

Louis H. Philipson, Rinki Murphy, Sian Ellard, Andrew T. Hattersley, Julie Støy, Siri A. Greeley, Graeme I. Bell and Kenneth S. Polonsky


Chapter 3

Obesity

Beatrice Dubern, Patrick Tounian, and Karine Clément


Chapter 4

Syndromes of Severe Insulin Resistance and/or Lipodystrophy

Robert K. Semple, David B. Savage, David J. Halsall, and Stephen O’Rahilly


Section 3: Pituitary


Chapter 5

Functioning Pituitary Adenomas

Albert Beckers and Adrian F. Daly


Chapter 6

Diabetes Insipidus

Soren Rittig and Jane H. Christensen


Chapter 7

States of Pituitary Hypofunction

Christopher J. Romero and Sally Radovick


Section 4: Thyroid


Chapter 8

Congenital Defects of Thyroid Hormone Synthesis

Helmut Grasberger and Samuel Refetoff


Chapter 9

Developmental Abnormalities of the Thyroid

Joachim Pohlenz and Guy Van Vliet


Chapter 10

Syndromes of Reduced Sensitivity to Thyroid Hormone

Roy E Weiss, Alexandra M. Dumitrescu and Samuel Refetoff


Chapter 11

Molecular Genetics of Thyroid Cancer: Pathogenetic Significance and Clinical Applications

Nicholas Mitsiades and James A. Fagin


Section 5: Parathyroid and Bone


Chapter 12

Genetics of Hyperparathyroidism Including Parathyroid Cancer

Andrew Arnold and Kelly Lauter


Chapter 13

Genetic Diagnosis of Skeletal Dysplasias

Benjamin Alman


Chapter 14

Vitamin D Disorders

Michael F. Holick


Section 6: Adrenal


Chapter 15

Congenital Adrenal Hyperplasia

Saroj Nimkarn and Maria I. New


Chapter 16

Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes

Rossella Libé , Lionel Groussin, Jérôme Bertherat and Xavier Bertagna


Chapter 17

Hereditary Pheochromocytoma and Multiple Endocrine Neoplasia type 2 (MEN2)

Thereasa A. Rich, Camilo Jimenez and Douglas B. Evans


Chapter 18

Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance

Constantine A. Stratakis


Section 7: Reproductive


Chapter 19

Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities

Leslie Hoffman and David A. Ehrmann


Chapter 20

Genetic Diagnosis of Hypogonadotropic Hypogonadism and Kallmann Syndrome

Lawrence C. Layman


Chapter 21

Disorders of Sex Development

Valerie A. Arboleda, Alice A. Fleming and Eric Vilain


Chapter 22

Genetic Defects of Androgen Resistance

Kenan Qin


Section 8: Multisystem Disorders


Chapter 23

Multiple Endocrine Neoplasia Type 1 (MEN1)

Cornelis J.M. Lips, Koen M.A. Dreijerink, Rob B. van der Luijt, Bernadette P.M. van Nesselrooij and Jo W.M. Höppener


Chapter 24

Genetics of Polyglandular Failure

Manuela Dittmar and George J. Kahaly


Section 9: Growth


Chapter 25

Genetic Diagnosis of Growth Failure

Ron G. Rosenfeld and Vivian Hwa


Section 10: Counseling and Laboratory


Chapter 26

Genetic Counseling

Shelly Cummings


Chapter 27

Setting up a Laboratory

Loren J. Joseph




Author Information
Edited by Roy E. Weiss, Rabbi Morris I. Esformes Professor of Medicine and Chief, Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, and Chairman (Interim) Department of Medicine, University of Chicago, Chicago, IL and Samuel Refetoff, Frederic H. Rawson Professor in Medicine and Professor of Pediatrics; Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Department of Medicine, and the Committee on Genetics, University of Chicago, Chicago, IL