The purpose of this book is to provide a resource for providers who care for girls and women with Turner syndrome. Turner syndrome occurs in 1:1800-2000 females, yet many providers may not have a lot of experience caring for a female with Turner syndrome. Patients with Turner syndrome have many of the same health issues as other females, but some health issues are at a higher frequency that necessitates more frequent and earlier screening.
Many contributors to this work are experts in the care of females with Turner syndrome, while others are experts in their own field of medicine who can apply this expertise to the care of individuals with Turner syndrome. They all have worked on this project as a labor of love and for the benefit of the girl or woman with Turner syndrome. I wish to thank each of them for their significant contributions to this book.
The chapters in the book are organized by subspecialty and/or major health issue, with the goal to provide in-depth coverage of the health issues faced by those with Turner syndrome. Seattle, WA, USA: Patricia Y. Fechner, MD

1 Description of Turner Syndrome 1

2 The Genetics of Turner Syndrome 13

3 Pattern and Etiology of Growth Disturbance in Turner Syndrome and Outcomes of Growth-Promoting Treatments 33

4 Fertility Preservation for Turner Syndrome 79

5 Estrogen Replacement in Turner Syndrome 93

6 The Heart and Vasculature in Turner Syndrome: Development, Surveillance, and Management 123

7 Renal Disorders and Systemic Hypertension 139

8 Endocrine and Metabolic Consequences of Turner Syndrome 157

9 Care of Girls with Turner Syndrome: Beyond Growth and Hormones 175

10 Ear and Hearing Problems in Turner Syndrome 185

11 Ocular Features in Turner Syndrome 199

12 Gastrointestinal and Hepatic Issues in Women with Turner Syndrome 205

13 Dermatologic Conditions in Turner Syndrome 221

14 Orthopedic Manifestations in Turner Syndrome 237

15 Oral Manifestations in Turner Syndrome 249

16 The Turner Syndrome Resource Center: An Interdisciplinary Approach to the Care of Girls and Women with Turner Syndrome 257

17 Future Directions 267

Index 271

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