Turner Syndrome: Pathophysiology, Diagnosis and Treatment

ISBN-13: 9783030341480 / Angielski / Twarda / 2020 / 276 str.

Patricia Y. Fechner

Spis treści

1. Description of Turner Syndrome

Alissa J. Roberts and Patricia Y. Fechner 

2. The Genetics of Turner Syndrome 

Margaret P. Adam and Melanie A. Manning 

3. Patterns and Etiology of Growth Disturbance and Outcomes of Growth-promoting Treatments

Charmian Quiqley 

4. Fertility Preservation for Turner Syndrome

Courtney Finlayson, Lia Bernardi and Reema Habiby 

5. Estrogen Replacement in Turner Syndrome

Karen O. Klein, Robert L. Rosenfield, Richard J. Santen, Aneta M. Gawlik, Philippe F. Backeljauw, Claus H. Gravholt, Theo C. J. Sas and Nelly Mauras

6. The Heart and Vasculature in Turner Syndrome: Development, Surviellance, and Management

Luciana T. Young and Michael Siberbach

7. Renal Disorders and Systemic Hypertension 

Yosuke Miyashita and Joseph Flynn 

8. Endocrine and Metabolic Consequences of Turner Syndrome

Mette H. Viuff and Claus H. Gravholt

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

Angel Siu Ying Nip, MD and Darcy King, ARNP

10. Ear and Hearing Problems in Turner Syndrome 

Åsa Bonnard and Malou Hultcrantz 

11. Ocular Features in Turner Syndrome 

Erin P. Herlihy, MD and Jolene C. Rudell, MD, PhD

12. Gastrointestinal and Hepatic Issues in women with Turner Syndrome

Ghassan T. Wahbeh, Amanda Bradshaw, Lauren White and Dale Lee 

13. Dermatologic Conditions in Turner Syndrome

Alessandra Haskin and Eve Lowenstein

14. Orthopedic Manifestations in Turner Syndrome

Anna M. Acosta, Suzanne E. Steinman and Klane K. White

15. Oral Manifestations in Turner syndrome

Carolina Di Blasi, MD and Harlyn Susarla 

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

Philippe Backeljauw and Sarah Corathers

17. Future Research Directions

Patricia Fechner

O autorze

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

Blurb

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.