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.
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
Patricia Y. Fechner
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