| Description |
1 online resource (xiii, 276 pages) : illustrations (some color) |
| Contents |
Intro -- Preface -- Contents -- Contributors -- Chapter 1: Description of Turner Syndrome -- Introduction -- Incidence -- Karyotype -- Phenotype -- Short Stature/Skeletal Manifestations -- Primary Ovarian Failure -- Congenital Heart Disease and Cardiovascular Concerns -- Lymphatic Obstruction -- Renal -- Autoimmunity -- Psychological/Cognitive -- Cancer Risk -- References -- Chapter 2: The Genetics of Turner Syndrome -- Introduction -- Structure and Function of Sex Chromosomes -- X-Inactivation -- Imprinted Genes on the X Chromosome |
|
Genes on the X Chromosome that Contribute to the Features of Turner Syndrome -- How Structural Rearrangements Occur -- X-Linked Disorders -- Genetic Testing -- Prenatal Testing -- Postnatal Testing -- Recurrence Risks -- Unaffected Parents -- Affected Mother -- Father with a Structurally Abnormal Y Chromosome -- Commentary -- References -- Chapter 3: Pattern and Etiology of Growth Disturbance in Turner Syndrome and Outcomes of Growth-Promoting Treatments -- Spontaneous Growth Pattern in Childhood and Adolescence, and Adult Height of Untreated Women |
|
Growth Pattern and Height During Infancy, Childhood, Adolescence, and Adulthood -- Prediction of Mature Height -- Body Proportions and Skeletal Anomalies -- Etiology of the Growth Disturbance -- SHOX Deficiency -- Alterations of GH and IGF-I Physiology -- Estrogen Deficiency -- Growth-Promoting Therapies -- Goals of Growth-Promoting Therapies -- Growth Hormone (GH) -- History of GH Treatment in TS -- Randomized Controlled Trials with Parallel Placebo or Nontreatment Control Groups -- Characteristics and Limitations of Studies -- Short-Term Growth Response (Height Velocity, Height SDS) |
|
Long-Term Outcomes (Height in cm, Height SDS, Percentage of Subjects who Attain AH Within Normal Range) -- Studies without Parallel Control Groups (Historical Control, Predicted/Projected Height Comparison, Dose-Response) -- Observational Studies, Height Prediction Models, and Factors Influencing Response to GH Treatment -- Age at GH Initiation -- GH Dose and Frequency of Administration -- Individual Patient Outcomes -- Effects of GH Treatment on Psychosocial, Neurocognitive and Quality of Life Outcomes -- Monitoring and Safety of GH Treatment -- Efficacy Monitoring -- Safety Overview |
|
Mortality and Cardiovascular Disorders -- Neoplasia -- Glucose, Insulin, and Carbohydrate Metabolism -- Contraindications to GH Treatment -- Oxandrolone -- Low-Dose Estrogen During Childhood (Prepuberty) -- Summary -- References -- Chapter 4: Fertility Preservation for Turner Syndrome -- Nonexperimental Fertility Options -- Adoption -- Spontaneous Pregnancy -- Oocyte Donation -- Gestational Surrogacy -- Oocyte Cryopreservation Following Ovarian Stimulation -- Experimental Fertility Options -- Ovarian Tissue Cryopreservation -- Risks of Ovarian Tissue Cryopreservation Procedures |
| Summary |
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 |
| Notes |
Risks to Offspring |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| Subject |
Turner's syndrome -- Diagnosis
|
|
Turner's syndrome -- Treatment
|
|
Endocrinology.
|
|
Endocrinology
|
|
Paediatric medicine.
|
|
Endocrinology.
|
|
Medical -- Pediatrics.
|
|
Medical -- Endocrinology & Metabolism.
|
|
Endocrinology
|
|
Pediatrics
|
| Form |
Electronic book
|
| Author |
Fechner, Patricia Y.
|
| ISBN |
9783030341503 |
|
303034150X |
|
9783030341497 |
|
3030341496 |
|
