BookPatricia Y. Fechner, editor.
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.
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