1.

Record Nr.

UNINA9910163018703321

Titolo

Understanding differences and disorders of sex development (DSD) / / volume editors O. Hiort, S. F. Ahmed

Pubbl/distr/stampa

Basel, Switzerland : , : S. Karger AG, , 2014

©2014

ISBN

3-318-02559-3

Descrizione fisica

1 online resource (312 p.)

Collana

Endocrine Development, , 1662-2979 ; ; Volume 27

Disciplina

616.6/94

Soggetti

Intersexuality - History

Sex differentiation - Endocrine aspects

Lingua di pubblicazione

Inglese

Formato

Materiale a stampa

Livello bibliografico

Monografia

Note generali

"28 figures, 12 in color, and 26 tables, 2014"--Cover.

Nota di bibliografia

Includes bibliographical references and indexes.

Nota di contenuto

""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""

Sommario/riassunto

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.