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Turner Syndrome

Pathophysiology, Diagnosis and Treatment

  • Book
  • © 2020

Overview

Editors:
  1. Patricia Y. Fechner

    1. Division of Endocrinology, Seattle Children’s Hospital, University of Washington, Seattle, USA

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  • A unique and practical guide to Turner syndrome, taking a multidisciplinary, body systems approach

  • Covers biology, genetics and standards of care for this multifaceted and complex disorder

  • Each body system chapter is written by an expert in that area, describing diagnosis and management of the symptoms affecting that system

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Table of contents (17 chapters)

  1. Front Matter

    Pages i-xiii
    Download chapter PDF

  2. Description of Turner Syndrome

    • Alissa J. Roberts, Patricia Y. Fechner
    Pages 1-12

  3. The Genetics of Turner Syndrome

    • Margaret P. Adam, Melanie A. Manning
    Pages 13-31

  4. Pattern and Etiology of Growth Disturbance in Turner Syndrome and Outcomes of Growth-Promoting Treatments

    • Charmian A. Quigley
    Pages 33-78

  5. Fertility Preservation for Turner Syndrome

    • Courtney Finlayson, Lia Bernardi, Reema Habiby
    Pages 79-91

  6. Estrogen Replacement in Turner Syndrome

    • Karen O. Klein, Robert L. Rosenfield, Richard J. Santen, Aneta M. Gawlik, Philippe Backeljauw, Claus H. Gravholt et al.
    Pages 93-122

  7. The Heart and Vasculature in Turner Syndrome: Development, Surveillance, and Management

    • Luciana T. Young, Michael Silberbach
    Pages 123-138

  8. Renal Disorders and Systemic Hypertension

    • Yosuke Miyashita, Joseph T. Flynn
    Pages 139-155

  9. Endocrine and Metabolic Consequences of Turner Syndrome

    • Mette H. Viuff, Claus H. Gravholt
    Pages 157-174

  10. Care of Girls with Turner Syndrome: Beyond Growth and Hormones

    • Angel Siu Ying Nip, Darcy King
    Pages 175-183

  11. Ear and Hearing Problems in Turner Syndrome

    • Åsa Bonnard, Malou Hultcrantz
    Pages 185-197

  12. Ocular Features in Turner Syndrome

    • Erin P. Herlihy, Jolene C. Rudell
    Pages 199-204

  13. Gastrointestinal and Hepatic Issues in Women with Turner Syndrome

    • Ghassan T. Wahbeh, Amanda Bradshaw, Lauren White, Dale Lee
    Pages 205-220

  14. Dermatologic Conditions in Turner Syndrome

    • Alessandra Haskin, Eve Lowenstein
    Pages 221-236

  15. Orthopedic Manifestations in Turner Syndrome

    • Anna M. Acosta, Suzanne E. Steinman, Klane K. White
    Pages 237-248

  16. Oral Manifestations in Turner Syndrome

    • Carolina Di Blasi, Harlyn Susarla
    Pages 249-255

  17. The Turner Syndrome Resource Center: An Interdisciplinary Approach to the Care of Girls and Women with Turner Syndrome

    • Philippe Backeljauw, Sarah Corathers
    Pages 257-265

  18. Future Directions

    • Patricia Y. Fechner
    Pages 267-270

  19. Back Matter

    Pages 271-276
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Keywords

About this book

Comprehensive and practical, this is a unique and multidisciplinary resource for the clinician caring for the girl or woman with Turner syndrome. Although approximately one in 2000 women are affected, many have not been diagnosed; as the advent of prenatal genetic testing becomes more prevalent, the diagnosis of Turner syndrome will be made much more frequently. There is therefore a greater need for this single source that provides the clinician with the information required to care for this multifaceted disorder. 

The opening chapters discuss the biology, genetics and current standard of care for females with Turner syndrome in order to provide proper background and context for the remaining chapters. The main section of the book, taking a body system approach, is comprised of chapters written by an expert in his or her subspecialty and will discuss pathophysiology and diagnosis, as well as therapeutic options. Reproductive, cardiac, renal, endocrine, neurologic, musculoskeletal, and sensory issues and symptoms associated with Turner syndrome are all covered in detail. Additional chapters describe current resources available to both caregiver and patient as well as future directions for research and management. 


Currently, there are no similar books on the market that take an all-inclusive, multidisciplinary approach in the care of individuals with Turner syndrome. As such, this book should be the standard of care for management of this challenging and multifaceted condition.

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Editors and Affiliations

  • Division of Endocrinology, Seattle Children’s Hospital, University of Washington, Seattle, USA

    Patricia Y. Fechner

About the editor

Patricia Y. Fechner, MD, University of Washington, Seattle Children's Hospital, Division of Endocrinology, Seattle, WA, USA

Bibliographic Information

  • Book Title: Turner Syndrome

  • Book Subtitle: Pathophysiology, Diagnosis and Treatment

  • Editors: Patricia Y. Fechner

  • DOI: https://doi.org/10.1007/978-3-030-34150-3

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer Nature Switzerland AG 2020

  • Hardcover ISBN: 978-3-030-34148-0Published: 21 March 2020

  • eBook ISBN: 978-3-030-34150-3Published: 20 March 2020

  • Edition Number: 1

  • Number of Pages: XIII, 276

  • Number of Illustrations: 12 b/w illustrations, 26 illustrations in colour

  • Topics: Endocrinology, Pediatrics

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