Cover

Front Matter

Contents

Foreword

Preface

Concepts

Gonadal Development

Abstract

Molecular Determinants of the Bipotential Gonad

Molecular Determinants of Testis

Molecular Determinants of the Ovary

Conclusions

Acknowledgements

References

The Masculinization Programming Window

Abstract

Reproductive Tract Development and Differentiation

Internal Reproductive Organ Differentiation

Differentiation of the External Genitalia

Masculinization Programming Window in Males

Clinical Implications of the MPW in Males

Masculinization Programming Window in Females

Anogenital Distance

Modulation of Androgen Signal through Conditional Mutant Mice

Conclusion

References

Androgen Action

Abstract

The Androgen Receptor

Genomic Action of the Androgen Receptor

Programming Androgen Actions

Summary

Acknowledgements

References

Technological Advances

Steroid Biochemistry

Abstract

Steroidogenesis

Measurement of Steroids in Body Fluids

Defining of Specific Conditions

Conclusions and Future Perspective

References

Next Generation Sequencing for Disorders of Sex Development

Abstract

Whole Genome or Exome?

Not All Exome Datasets Are the Same

Reporting Next Generation Sequencing Results

Multiple Next Generation Sequencing Approaches to Understand Disorders of Sex Development

Conclusions

Acknowledgements

References

Advances in Neuroimaging

Abstract

Computed Tomography

Magnetic Resonance Imaging

Single Photon Emission Computed Tomography and Positron Emission Tomography

Functional Magnetic Resonance Imaging

Magnetic Resonance Spectroscopy

Diffusion Tensor Imaging

Sexual Dimorphism of Brain Structure and Function

Structural Differences

Functional Differences

Neuroimaging in Disorders of Sex Development

Conclusion

References

Imaging, Endoscopy and Diagnostic Surgery

Abstract

Techniques

Imaging of the Gonads

Imaging of the Sex Ducts and the Vagina

Imaging of the Genitalia

Very Rare Disorders of Sex Development

Concluding Remarks

References

Fertility Issues in the Management of Patients with Disorders of Sex Development

Abstract

Dysgenetic Disorders of Sex Development

46,XY Disorder of Sex Development due to Abnormal Testicular Hormone Synthesis or Action

46,XX Disorders of Sex Development due to Excessive Androgen Exposure

References

Communication

Disorders of Sex Development Peer Support

Abstract

History of Disorders of Sex Development Peer Support

Value of Peer Support: Evaluation of the Evidence and Lessons to Be Learned

Current Peer Support in Disorders of Sex Development

Current State of Affairs and Opportunities for Improvement

Acknowledgements

References

Improving the Communication of Healthcare Professionals with Affected Children and Adolescents

Abstract

Communicating in a Triad: Physician-Child-Parent

When Should the Child Be Informed?

Developmental Stages, with Examples for Tools

The Adolescent with a New Diagnosis

Professional Roles

Secrecy and Families, Shame and Stigma

Legal and Ethical Issues

References

Suggested Webpages

Working with Adolescents and Young Adults to Support Transition

Abstract

Focus on the Adolescents or Young Adults with Disorders of Sex Development and Their Caregivers

Focus on the Multidisciplinary Team and Adapting Services to Meet the Needs of Adolescents and Young Adults with Disorders of Sex Development

Focus on Transition and Transfer

Conclusion

References

Past Experiences of Adults with Disorders of Sex Development

Abstract

GrApSIA Presentation: What a Support Group Is and What Being AIS Represents

GrApSIA Itinerary and Objectives

Analysis of Testimonies from GrApSIA

References

The Use of Drugs

Sex Hormone Replacement in Disorders of Sex Development

Abstract

Oestrogen Replacement Therapy in Disorders of Sex Development

Androgen Replacement Therapy in Disorders of Sex Development

Monitoring Hormonal Replacement Therapy

Conclusions and Perspectives

References

Hydrocortisone Replacement in Disorders of Sex Development

Abstract

Natural Secretory Pattern of Cortisol

History of Replacement Therapy in Adrenal Insufficiency

Challenge of Hydrocortisone Treatment in Patients with Congenital Adrenal Hyperplasia

Hydrocortisone Dosing Schemes

Special Problems of Hydrocortisone Replacement in Children

Current Problems of Hydrocortisone Replacement – Need for Further Developments?

Prenatal Therapy

Monitoring Hydrocortisone Replacement Therapy

Mineralocorticoid Replacement Therapy in Congenital Adrenal Hyperplasia

Conclusions and Perspectives

Acknowledgements

References

Tumours

Advances in Molecular Markers of Germ Cell Cancer in Patients with Disorders of Sex Development

Abstract

Germ Cell Cancer in Patients with Disorders of Sex Development

Normal Gonadal Development

Sex Determination

Germ Cell Development

Environmental Factors and Germ Cell Cancer

Epigenetic Markers

Serum Markers

Future Perspectives

Acknowledgements

References

Managing the Risk of Germ Cell Tumourigenesis in Disorders of Sex Development Patients

Abstract

Estimating Germ Cell Cancer Risk in the Individual Patient

Gonadectomy or Not?

Current and Future Non-Surgical Methods for Follow-Up of Gonads in situ

Conclusions

References

Timing of Surgery

Timing of Hypospadias Repair in Patients with Disorders of Sex Development

Abstract

Surgical Considerations

Anesthetic Considerations

Experimental and Anthropometric Considerations

Psychological, Developmental and Psychosexual Considerations

References

Timing of Surgery for Feminizing Genitoplasty in Patients Suffering from Congenital Adrenal Hyperplasia

Abstract

On Clitoral Surgery

On Vaginoplasty

Conclusion

References

Timing of Feminising Surgery in Disorders of Sex Development

Abstract

Arguments for Early Surgery

Arguments for Late Surgery

Suggested Treatment Approach

Conclusion

References

Phalloplasty: A Panacea for 46,XY Disorder of Sex Development Conditions with Penile Deficiency?

Abstract

Clinical Management of Conditions Involving Penile Deficiency

Psychosexual Outcome after Masculinizing Genital Surgery, Including Phalloplasty

Recommendations for the Psychosocial Management of Penile Deficiency

Conclusion

References

International Aspects

Rare Diseases Research and Practice

Abstract

What are Rare Diseases?

European and International Action Plans for Rare Diseases

European and International Initiatives for Rare Disease Research

Centres of Expertise, European Reference Network, Cross-Border Care

Clinical Trials and Orphan Drugs

National and International Registries

Rare Diseases Prevention (Primary and Secondary)

Guidelines and Best Practices

Information Sources

Patient Organisations

Unsolved Issues in Rare Diseases

References

Achieving Diagnostic Certainty in Resource-Limited Settings

Abstract

Frequency of Disorders of Sex Development

Age of Presentation

Diagnostic Test Facilities

Multidisciplinary Team

Ethical Dilemmas, Cultural Variation and Social Issues

Social Stigma and Taboos

Challenges Encountered

Parental Support Groups

Conclusion

References

Global Application of Disorders of Sex Development-Related ElectronicResources: e-Learning, e-Consultation and e-Information Sharing

Abstract

e-Learning for Disorders of Sex Development

Assessment in e-Learning

e-Consultation

e-Information

A Step-By-Step Approach to e-Resource Development

Conclusions and Recommendations

Acknowledgements

References

International Networks for Supporting Research and Clinical Care in the Field of Disorders of Sex Development

Abstract

Quality Criteria for Centres of Expertise for Rare Diseases

Concept of European Reference Networks

Centres of Expertise for Disorders of Sex Development

National Networks in Disorders of Sex Development

International Networks in Disorders of Sex Development

Examples of International Co-Operation in Disorders of Sex Development Research

The I-DSD Registry and Its Role as a Virtual Network

Conclusion

References

Author Index

Subject Index

Cover