Endocrinology and Metabolism: Progress in Research and Clinical Prac tice is a new series that has been designed to present timely, critical reviews of constantly evolving fields; to provide practical and up-to-date guidance in the solution of pertinent clinical problems; to offer an alterna tive to the laborious search of the literature (and the often frustrating reading of highly technical articles); and to translate the language of the laboratory into that of the practice of medicine. We think that this volume and those to come will prove useful to physi cians (and to physicians in training), as well as to investigators in a wide variety of specialties; in short, to anyone who seeks answers to questions in endocrinology and metabolism. The first chapter of this volume could well serve as a general introduc tion to the entire series. It points out how our growing understanding of the molecular basis of biologic communication has led to the discovery of a growing number of clinical syndromes, as well as to the realization that phenotypically similar diseases may have radically different pathogenetic mechanisms and thus may require radically different therapeutic strata gems.
Table of Contents1. Introduction: The Journey of the Endocrine Signal: A Paradigm of Murphy’s Law.- I. Chemical Control of Morphogenesis.- II. Hormone Biosynthesis.- III. Hormone Storage and Release.- IV. Hormone Transport.- V. Hormone Binding and Recognition.- VI. Transduction of the Endocrine Signal.- VII. Extinction of the Endocrine Signal.- VIII. Drug-Induced Changes of the Endocrine Signal.- IX. Summary.- 2. Insulin Gene Mutations and Abnormal Products of the Human Insulin Gene.- I. Insulin Biosynthesis.- II. Abnormal Insulin Gene Products.- III. Structure-Function Relationships and Biological Activity.- IV. Clinical Relevance.- V. Summary and Perspectives.- 3. Euthyroid Hyperthyroxinemia.- I. Binding Abnormalities.- II. Hormone Resistance Syndromes.- III. Nonthyroidal Illness.- IV. Drugs.- V. Exogenous T4 Administration.- VI. High Altitude.- VII. Summary.- 4. Pseudohypoparathyroidism: Target Organ Resistance to Parathyroid Hormone and Other Metabolie Defects.- I. A Selective Historical Review.- II. Classification.- III. Pathogenesis.- IV. Function of Other Endocrine Systems in PsHP.- V. Genetics of PsHP.- VI. Treatment of PsHP.- 5. Syndromes of Vitamin D Resistance.- I. Vitamin D Metabolism.- II. Vitamin D Physiology.- III. Hormone Action.- IV. Vitamin D and Elemental Deficiency.- V. Phosphate-Wasting Syndromes.- VI. Vitamin DDependent Rickets.- VII. Summary.- 6. Androgen Insensitivity Syndromes: Paradox of Phenotypic Feminization with Male Genotype and Normal Testicular Androgen Secretion.- I. Historical Considerations.- II. Normal Androgen Physiology.- III. Classification of Male Pseudohermaphroditism.- IV. Molecular Mechanisms of Androgen Action in Target Cells.- V. Clinical Syndrome of 5?-Reductase Deficiency.- VI. Androgen Receptor and Postreceptor Defects.- VII. Concluding Remarks.- 7. States of Aldosterone Deficiency or Pseudodeficiency.- I. Physiologic Effects of Mineralocorticoid Hormones.- II. Syndromes of Aldosterone Deficiency and Pseudodeficiency.- 8. Bartter’s Syndrome.- I. Case Summaries.- II. Historical Perspective.- III. Etiology and Pathophysiology.- IV. Differential Diagnosis.- V. Clinical Evaluation.- VI. Treatment.- VII. Analysis of Cases.