Turner Syndrome

Pathophysiology, Diagnosis and Treatment

Buch | Hardcover

XIII, 276 Seiten

2020 | 1st ed. 2020
Springer International Publishing (Verlag)
978-3-030-34148-0 (ISBN)

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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.

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

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.

Erscheinungsdatum	22.03.2020
Zusatzinfo	XIII, 276 p. 38 illus., 26 illus. in color.
Verlagsort	Cham
Sprache	englisch
Maße	155 x 235 mm
Gewicht	720 g
Themenwelt	Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie
Schlagworte	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
ISBN-10	3-030-34148-8 / 3030341488
ISBN-13	978-3-030-34148-0 / 9783030341480
Zustand	Neuware