Cover

Front Matter

Contents

Preface

Pituitary Gland Development: An Update

Abstract

Pituitary Gland

Congenital Hypopituitarism and Associated Defects

Overlap between Congenital Hypopituitarism and Midline Defects with Kallmann Syndrome

Conclusions

References

Pituitary Gland Imaging and Outcome

Abstract

Imaging of Normal Pituitary

MRI Phenotypes and Outcome

Conclusions

Key Issues

References

Spectrum of Insulin-Like Growth Factor Deficiency

Abstract

GHSR Defects

Bioinactive Growth Hormone (Kowarski Syndrome)

Growth Hormone Receptor Defects

STAT5B Mutations

Activating PTPN11 Mutations

IκBα Mutation

ALS Deficiency

IGF Defects

Digenic and Oligogenic Causality

Diagnostic Approach of Children with IGF-1 Deficiency

Conclusion

References

Downstream Insulin-Like Growth Factor

Abstract

At the Lower End of the GHRH-IGF-1 Axis

IGF-1 Mutations

Molecular Genetics of the IGF-1R

Human IGF-1 Receptor Mutations

Mutations Resulting in Haploinsufficiency of the IGF-1R

Mutations Affecting IGF-1R Biosynthesis

Mutations Interfering with Ligand Binding and Transmembrane Signaling

Mutations Disrupting IGF-1R Tyrosine Kinase Activity

Phenotype of Patients with IGF1R Mutations

Treatment of Short Stature in IGF-1R Patients

Conclusions

References

New Detection Methods of Growth Hormone and Growth Factors

Abstract

Evidence for Performance Enhancement and Abuse of Recombinant GH in Sports

How Can the Application of Growth Hormone Be Detected?

The Marker Approach

The Isoform Approach

Conclusion

References

Imprinted Anomalies in Fetal and ChildhoodGrowth Disorders: The Model of Russell-Silver and Beckwith-Wiedemann Syndromes

Abstract

Russell-Silver Syndrome

Beckwith-Wiedemann Syndrome

Human Multilocus Imprinting Disorders

Assisted Reproductive Technologies and LOI

Identified Molecular Etiologies of RSS and BWS

Conclusions

Acknowledgments

References

Bioinformatics Tools and Databases for the Study of Human Growth Hormone

Abstract

Basic Analytical Methods

Molecular Genetics of Human Growth Hormone

Bioinformatics Methods and Databases for Disease Information

Structural Computational Biology Approaches

Acknowledgements

References

Growth Hormone and Cell Growth

Abstract

Clinical Use of Growth Hormone to Enhance Cell Growth

Growth Hormone and Cell Growth

Growth Hormone Receptor

Unique Importance of STAT5 for Postnatal Growth

Growth Hormone and Stem Cell Recruitment

Growth Hormone Receptor in the Cell Nucleus and Its Role in Cell Proliferation

Proteins Interacting with Extracellular Domain of Nuclear GHR

Conclusions

References

From Endoplasmic Reticulum to Secretory Granules: Role of Zinc in the Secretory Pathway of Growth Hormone

Abstract

Protein Aggregation in the Formation of Secretory Granules

Dimerization versus Oligomerization of GH by Zinc: which Is the One that Mediates GH Storage in Secretory Granules?

Zinc Transporters and Their Role in the Early Secretory and the Regulated Secretory Pathway

Conclusions

References

Isolated Growth Hormone Deficiency Type 2: From Gene to Therapy

Abstract

Introduction

IGHD-2: Therapeutic Approaches by RNA Interference

Rescue of IGHD-2 by Pharmacologic Correction of Aberrant Splicing

Conclusions

References

Author Index

Subject Index

Cover