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.

Lately, football has put a lot into perspective for me. Take a look at the two starting quarterback for the Super Bowl between New England and Seattle.

New England’s Tom Brady seems to be the prototypical signal caller, standing at 6 feet, 4 inches tall.

On the other hand, Seattle Russell Wilson for the Seattle Seahawks is listed at 5’11.” New England wide receiver, Julian Edelman, who was the star of the Patriots’ victory over Baltimore is listed at 5’10,” which is the average U.S man’s height

Much like the children, we see at Cook Children’s, athletes come in all shapes and sizes.

Probably half of the children I treat are brought by families due to concerns about height. The reality of life is that people come in all heights, and height offers an opportunity to make assumptions and judgments about a person which can sometimes be hurtful.

Cincinnati Bengals Head Coach, Marvin Lewis, created a social media firestorm when he said this about the undersized quarterback for the Cleveland Browns and Heisman Trophy winner at Texas A&M, Johnny Manziel.

“You gotta go defend the offense. You don’t defend the player, particularly a midget.”

Lewis quickly apologized for his words as others including organizations like Little People of American explained to him how derogatory and offensive the term was especially to those with serious medical conditions causing their short stature.

The movie, “Rudy,” is a perfect example. It’s one of the most inspiring stories about a shorter man with a passion for football who overcame the odds. At 5’6”, Rudy Ruettiger wasn’t a typical defensive lineman for Notre Dame, but his hard work and dedication paid off with a chance to play.

My opinion is that it’s important to have the right perspective about height. A good attitude and acceptance of one’s height is important and a person shouldn’t make judgments about another solely on height.

Sometimes it’s something more than just genetics or the child being a “late bloomer,” it can be an endocrine disease and the child will need treatment for a condition such as hypothyroidism or growth hormone deficiency.

At times, we the child may have trouble coping with his or her size and may even need counseling.

In my area of expertise, it is a challenge to determine whether a child’s height is normal or not. There are times when height and growth are abnormal, and further investigation is needed:

Genetics: Shorter parents often times have shorter children. These kids continue to achieve milestones such as puberty or growth spurts at a normal rate, but they generally stay around the same height as their parents.

If a child is terribly uncomfortable with his or her height, we may talk to the family about counseling. If the child doesn’t reach puberty at the normal age, the discussion may include puberty hormone treatment. But, this needs to be decided with your endocrinologist or pediatrician.

Constitutional growth delay: These are often times what’s considered “late bloomers.” Children with condition are small for their age, but continue to grow at a normal rate. They usually reach puberty later than other children and experience delay in sexual maturity. They usually catch up with their classmates, but it sometimes takes them longer.

Endocrine conditions: We treat these children for hypothyroidism or growth hormone deficiency. These children require treatment from an endocrinologist and may need medication for growth.

Turner syndrome: This is a common genetic condition occurring 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 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.

In the coming weeks, I’ll give more facts on children’s growth and talk when a parent should be concerned about their child’s growth.

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.