Cover

Front Matter

Contents

Preface

Thyroid Hormone Transporters and Resistance

Abstract

MCT8 and MCT10

Patients with MCT8 Mutations

Animal Model

TH Resistance Caused by Receptor Mutations

References

Genetics and Epigenetics of Parathyroid Hormone Resistance

Abstract

Acknowledgement

References

Gonadotropin Resistance

Abstract

LH Resistance in Genetic Males

LH Resistance in Women

FSH Resistance in Women

FSH Resistance in Men

Conclusions

Acknowledgments

References

Clinical and Molecular Aspects of Androgen Insensitivity

Abstract

Androgen-Dependent Genital Development

Genetics and Molecular Biology

Genetics in Androgen Insensitivity Syndromes

Clinical Management

Acknowledgment

References

Exploring the Molecular Mechanisms of Glucocorticoid Receptor Action from Sensitivity to Resistance

Abstract

The Glucocorticoid Receptor

Transcriptional Activation by the Glucocorticoid Receptor

Transcriptional Repression by the Glucocorticoid Receptor

Mechanisms Contributing to Glucocorticoid Resistance

Polymorphisms and Somatic Mutations in the Glucocorticoid Receptor Gene

Glucocorticoid Receptor Expression Level

Glucocorticoid Receptor Heterogeneity

Other Mechanisms of Glucocorticoid Resistance

Conclusion

Acknowledgements

References

ACTH Resistance: Genes and Mechanisms

Abstract

Defects in the ACTH Receptor Pathway

Disease Mechanism for MC2R and MRAP Defects

Defects in the Steroidogenic Pathway

Disease Mechanism for STAR Defects

Defects in Replication Pathways

Disease Mechanism for MCM4 Defect

Defects in Antioxidant Pathways

Disease Mechanism for Nicotinamide Nucleotide Transhydrogenase Defects

Conclusion

References

Primary Generalized Familial and Sporadic Glucocorticoid Resistance (Chrousos Syndrome) and Hypersensitivity

Abstract

The Human Glucocorticoid Receptor

Chrousos Syndrome and Primary Generalized Glucocorticoid Hypersensitivity

Clinical Evaluation

Endocrinologic Evaluation

Molecular Studies

Management

Conclusions

References

Pseudohypoaldosteronism

Abstract

The Mineralocorticoid Receptor

The Epithelial Sodium Channel

Sodium Reabsorption at Tight Epithelia

Pseudohypoaldosteronism

Conclusion

References

New Aspects of the Physiology of the GH-IGF-1 Axis

Abstract

GH Receptor Structure

GHR Mechanism of Action

GH-IGF-1 Axis: New Aspects

Factors Influencing the GH-IGF-1 Axis: Nutrition and Epigenetics

Conclusions

References

Molecular and Clinical Aspects of GHRH Receptor Mutations

Abstract

GHRH and GHRHR: Physiology, Structure and Regulation

The GHRHR Gene

GHRH Gene Mutations

GHRHR Polymorphisms

GHRHR Involvement in Pituitary Adenoma Formation

Diseases Associated with Inactivating GHRHR Mutations

Conclusions

References

Current Issues on Molecular Diagnosis of GH Signaling Defects

Abstract

GHR-IGF-1 Axis: STAT5b Pathway

Current Status of GH Signaling Defects

STAT5b Is the Critical Mediator of GH-Induced IGF-1 Production

STAT5b Protein and Molecular Defects Identified in Humans

Clinical and Biochemical Features of STAT5b Deficiency

Recommendations

Conclusion

References

Molecular IGF-1 and IGF-1 Receptor Defects: From Genetics to Clinical Management

Abstract

Molecular IGF1 Defects

Molecular IGF1R Defects

References

Phenotypes, Investigation and Treatmentof Primary IGF-1 Deficiency

Abstract

Physiology of GH and the IGF-1 System in Relation to Linear Growth

Mechanisms of GH and IGF-1 Actions

Phenotypes of Primary IGF-1 Deficiency Caused by Human GH-IGF Axis Mutations

The Continuum of Phenotypic Features

The Continuum of Biochemical Changes

Investigation of Primary IGF-1 Deficiency

Treatment of Primary IGF-1 Deficiency

Conclusions

References

Human Congenital Perilipin Deficiency and Insulin Resistan

Abstract

Lipodystrophies

Lipid Droplet Proteins and Lipodystrophy

Cell Death-Inducing DNA Fragmentation Factor-α-Like Effector C

Perilipin 1

Conclusions

Acknowledgements

References

Author Index

Subject Index

Cover