© 2020

Turner Syndrome

Pathophysiology, Diagnosis and Treatment

  • Patricia Y. Fechner

Table of contents

  1. Front Matter
    Pages i-xiii
  2. Alissa J. Roberts, Patricia Y. Fechner
    Pages 1-12
  3. Margaret P. Adam, Melanie A. Manning
    Pages 13-31
  4. Courtney Finlayson, Lia Bernardi, Reema Habiby
    Pages 79-91
  5. Karen O. Klein, Robert L. Rosenfield, Richard J. Santen, Aneta M. Gawlik, Philippe Backeljauw, Claus H. Gravholt et al.
    Pages 93-122
  6. Yosuke Miyashita, Joseph T. Flynn
    Pages 139-155
  7. Mette H. Viuff, Claus H. Gravholt
    Pages 157-174
  8. Angel Siu Ying Nip, Darcy King
    Pages 175-183
  9. Åsa Bonnard, Malou Hultcrantz
    Pages 185-197
  10. Erin P. Herlihy, Jolene C. Rudell
    Pages 199-204
  11. Ghassan T. Wahbeh, Amanda Bradshaw, Lauren White, Dale Lee
    Pages 205-220
  12. Alessandra Haskin, Eve Lowenstein
    Pages 221-236
  13. Anna M. Acosta, Suzanne E. Steinman, Klane K. White
    Pages 237-248
  14. Carolina Di Blasi, Harlyn Susarla
    Pages 249-255
  15. 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.


Cognitive function Congenital heart defect Estrogen replacement Gastrointestinal inflammatory condition Hearing impairment Hormone replacement therapy Neurologic defect Ocular defect Premature ovarian insufficiency Primary ovarian failure Short stature SHOX gene Systemic hypertension Turner syndrome X chromosome inactivation

Editors and affiliations

  • Patricia Y. Fechner
    • 1
  1. 1.Division of EndocrinologySeattle Children’s Hospital, University of WashingtonSeattleUSA

About the editors

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
  • Copyright Information Springer Nature Switzerland AG 2020
  • Publisher Name Springer, Cham
  • eBook Packages Medicine Medicine (R0)
  • Hardcover ISBN 978-3-030-34148-0
  • eBook ISBN 978-3-030-34150-3
  • Edition Number 1
  • Number of Pages XIII, 276
  • Number of Illustrations 12 b/w illustrations, 26 illustrations in colour
  • Topics Endocrinology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals
Internal Medicine & Dermatology


“Clinicians who care for individuals with Turner syndrome will find this book extremely useful and engaging. It is a must-have book for healthcare providers and ancillary interventionists involved in the care of individuals with Turner syndrome. … There is no comparison in the literature to this work due to not only the comprehensive coverage of Turner syndrome, but also the unique format that this book follows.” (Luis F Escobar, Doody's Book Reviews, December 4, 2020)