Turner Syndrome: Pathophysiology, Diagnosis and Treatment

by Patricia Y. Fechner

Overview

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.

Product Details

ISBN-13:	9783030341480
Publisher:	Springer International Publishing
Publication date:	03/21/2020
Edition description:	1st ed. 2020
Pages:	276
Product dimensions:	6.10(w) x 9.25(h) x (d)

About the Author

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

Table of Contents

1. Description of Turner Syndrome.- 2. The Genetics of Turner Syndrome.- 3. Patterns and Etiology of Growth Disturbance and Outcomes of Growth-promoting Treatments.- 4. Fertility Preservation for Turner Syndrome.- 5. Estrogen Replacement in Turner Syndrome.- 6. The Heart and Vasculature in Turner Syndrome: Development, Surviellance, and Management.- 7. Renal Disorders and Systemic Hypertension.- 8. Endocrine and Metabolic Consequences of Turner Syndrome.- 9. Care of Girls with Turner Syndrome: Beyond Growth and Hormones.- 10. Ear and Hearing Problems in Turner Syndrome.- 11. Ocular Features in Turner Syndrome.- 12. Gastrointestinal and Hepatic Issues in women with Turner Syndrome.- 13. Dermatologic Conditions in Turner Syndrome.- 14. Orthopedic Manifestations in Turner Syndrome.- 15. Oral Manifestations in Turner syndrome.- 16. The Turner Syndrome Resource Center —- An Interdisciplinary Approach to the Care of Girls and Women with Turner Syndrome.- 17. Future Research Directions.

Editorial Reviews

Reviewer: Luis F Escobar, MD, MS (Peyton Manning Children's Hospital)
Description: This book presents a unique and practical approach to the vast information available concerning Turner syndrome, which can sometimes be well hidden in the literature. The author and contributors have done an excellent job providing a comprehensive review of Turner syndrome.
Purpose: This book is intended to be a resource for providers caring for girls and women with Turner syndrome. It not only brings the subject to relevance, but it brings attention to the fact that a well-recognized genetic condition may intimidate healthcare providers when confronted with a Turner syndrome patient. It is designed to present the information in an easy-to-read manner but retain the medical information's importance and currency. The author and contributors have accomplished their goal extremely well.
Audience: 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.
Features: The book is organized in 17 chapters. Seldomly seen in books, the author has organized the chapters by body system. From cardiovascular risks to ear and hearing to fertility and estrogen replacement therapy, this book provides detailed and fascinating coverage of the current knowledge in Turner syndrome. Healthcare providers will find answers to common questions such as ocular features, oral manifestations, gastrointestinal risks, and orthopedic complications seen in Turner syndrome. Individual chapters can be purchased through the editorial company's website.
Assessment: Congratulations are in order. Author Dr. Fechner and contributors have done an excellent job. 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.

Doody's Review Service