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Turner Syndrome

Pathophysiology, Diagnosis and Treatment

  • 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
  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. Fertility Preservation for Turner Syndrome

    • Courtney Finlayson, Lia Bernardi, Reema Habiby
    Pages 79-91
  5. 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
  6. Renal Disorders and Systemic Hypertension

    • Yosuke Miyashita, Joseph T. Flynn
    Pages 139-155
  7. Endocrine and Metabolic Consequences of Turner Syndrome

    • Mette H. Viuff, Claus H. Gravholt
    Pages 157-174
  8. Care of Girls with Turner Syndrome: Beyond Growth and Hormones

    • Angel Siu Ying Nip, Darcy King
    Pages 175-183
  9. Ear and Hearing Problems in Turner Syndrome

    • Ă…sa Bonnard, Malou Hultcrantz
    Pages 185-197
  10. Ocular Features in Turner Syndrome

    • Erin P. Herlihy, Jolene C. Rudell
    Pages 199-204
  11. Gastrointestinal and Hepatic Issues in Women with Turner Syndrome

    • Ghassan T. Wahbeh, Amanda Bradshaw, Lauren White, Dale Lee
    Pages 205-220
  12. Dermatologic Conditions in Turner Syndrome

    • Alessandra Haskin, Eve Lowenstein
    Pages 221-236
  13. Orthopedic Manifestations in Turner Syndrome

    • Anna M. Acosta, Suzanne E. Steinman, Klane K. White
    Pages 237-248
  14. Oral Manifestations in Turner Syndrome

    • Carolina Di Blasi, Harlyn Susarla
    Pages 249-255
  15. Future Directions

    • Patricia Y. Fechner
    Pages 267-270
  16. Back Matter

    Pages 271-276

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.

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

Buy it now

Buying options

eBook USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book USD 139.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access