Turner syndrome: 4 questions answered
Endocrinologist gives the facts on genetic condition seen in 1 out of 2,500 girls
The Turner Syndrome Society of the U.S. (TSUS) has designated February to increase awareness in Turner syndrome. Pediatric endocrinologists including our pediatric endocrinology group at Cook Children’s care for many girls with Turner syndrome. Turner syndrome, a genetic condition, is one of the most common genetic conditions. It’s likely that you have met or will meet someone with this condition in your lifetime. Yet, few know much about Turner syndrome.
1. What Is Turner Syndrome?
Turner syndrome, named after one of the doctors who first described it, is a genetic condition in which all or some portion of the X chromosome is missing. The lack of vitals genes found on the X chromosome affects multiple organs in the body leading to the medical problems seen in girls with Turner syndrome.
The loss of X chromosome genes happens very early in fetal life. In fact, the pregnancy of many babies with Turner syndrome ends in miscarriage. The condition is one of the most common genetic conditions with an estimated 1 out every 2,500 girls born with Turner syndrome.
2. What Health Problems Do Turner Syndrome Girls Have?
The severity of health problems in Turner syndrome is variable and depends at least in part on the loss of gene activity from the missing X chromosome. Many pediatric subspecialists may be involved in the care of Turner syndrome depending on the number and severity of health problems.
Heart problems in particular can be life-threatening and may require surgery early in life. Lifelong monitoring of heart health is necessary as heart problems are the most common cause of early death in Turner syndrome.
There are two primary health problems which need pediatric endocrine care.
· Short Stature
· Ovarian Failure
Short stature is a near constant problem seen in almost 100 percent of girls with Turner syndrome. I, and many other pediatric endocrinologists, use growth hormone treatment in girls with Turner syndrome. Prompt diagnosis is necessary and earlier diagnosis is essential. Prior to the use of growth hormone treatment, the average height for Turner syndrome girls was 4’8”.
The ovaries fail to work properly in most girls with Turner syndrome resulting in inability to go through puberty. Pediatric endocrinologists often start estrogen treatment and monitor puberty progress. Women with Turner syndrome need lifelong hormone replacement therapy. The majority aren’t able to have children without assisted reproduction.
Many other health problems can occur in Turner syndrome, and lifelong medical care is needed to check for these problems and provide proper treatment.
3. How is the Diagnosis Made?
Some families learn about the diagnosis of Turner syndrome in their daughter prior to birth if amniocentesis is done. However, most girls with Turner syndrome are diagnosed after birth.
The process of diagnosing Turner syndrome begins with a careful medical history. Unexplained short stature or delayed puberty may be the first clues in the diagnosis of Turner syndrome.
Blood testing to check chromosomes is necessary to make a definite diagnosis.
4. What else do I need to know ?
I hope this article helps in better understanding Turner syndrome. An early medical check in a girl with signs of Turner syndrome such as short stature or delayed puberty may be the first step in diagnosis.
Joel Steelman, M.D., is an endocrinologist at the Cook Children's Endocrine and Diabetes program, which treats infants, children and teens with conditions that are caused by or affect the hormonal balance of the body. We understand the importance of working together and that's how we approach the care of our children. Follow him on Twitter: @The Endoguy.