Understanding Differences and Disorders of Sex Development (DSD)
1st Edition
Published on 17. September 2014
300 pages
978-3-318-02559-0 (ISBN)
Available for download
Description
Ten years ago a group of experts assembled in Chicago to develop a consensus on the management of conditions previously described as intersex. The consequences of this consensus have been far reaching, including a change in nomenclature, the development of greater collaboration across geographical boundaries, and a move towards greater involvement of patients and parents. Moreover, an international registry was established, as well as research and clinical networks. This book brings together a thorough overview on all these topics. Furthermore, the major technological advances in diagnostic genetic and biochemical capabilities over the past 10 years are outlined in detail. Offering a comprehensive update on various aspects of disorders of sex development (DSD), this book will be essential reading to all clinicians who are involved in delivering health care to patients with a DSD, as well as scientists involved in biomedical research related to DSD.
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O. Hiort | S.F. Ahmed
Understanding Differences and Disorders of Sex Development (DSD)
Book
09/2014
1st Edition
S. Karger
€197.95
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Content
- 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
