Living with Turner syndrome
The Turner syndrome society recently held its annual meeting in Dallas. I had the privilege along with several other physicians in the DFW area to speak at the meeting. This was my first opportunity to attend a Turner syndrome meeting, and I am grateful for the experience. New insights were gained by me, and new information shared by me helped attendees of my lecture to experience a more healthy lifestyle.
Turner syndrome is a common genetic condition occuring in 1 in every 2,500 girls born. It is caused by missing all or a portion of one of the X chromosomes. The condition varies in severity but has physical and psycho-educational impacts.
Care of the girls with Turner syndrome is an integral part of the practice of the pediatric endocrine group at Cook Children’s. The majority of girls affected will have short stature and early failure of the ovaries. Growth hormone treatment is prescribed and monitored by pediatric endocrinologists to treat short stature. The task of monitoring puberty and timing of estrogen replacement is equally important to insure overall health.
As I said, new insights were gained by me at this meeting. I have cared for girls with Turner syndrome from infancy to adolescence. The concept of transition medicine is a growing, important areas in the lives of both of pediatric physicians and the children treated by us with chronic medical conditions. The medical treatments offered currently, have led to vastly improved life quality and long life expectancy.
A new challenge has emerged for physicians, families and emerging adults with a chronic condition – how to live life with the unique challenges of their particular diagnosis. Learning from experiences in education, employment and health shared by young adult women with Turner syndrome during Q&A in my talk was very enlightning.
I was very pleased to spend some tiem at this year’s meeting and learn more about the society. The Turner Syndrome Society, like many other organizations devoted to support and advocacy for a specific condition, provides a forum for families and women with Turner syndrome throughout the stages of life. The education and social support provided by this organization at the national meetings is admirable, and the atmosphere of learning can only benefit girls and women with Turner syndrome in the future.
About the author
As a self-described ‘techie,’ Joel Steelman, M.D., has a keen interest in the wise use of technology to improve medical care. Since 2001, he has helped implement electronic medical recordkeeping in two endocrine practices. He still loves to write, and he is a regular contributor to the Physician Perspective page on the Cook Children’s Web site.
