If you are a girl who had Turner Syndrome or you have a friend or family member with this condition, you might be curious about this disorder, especially about just why and how it happens — and how it can be treated. Read on to find out more about this unusual condition.

What is Turner Syndrome?

Turner Syndrome is a condition that can only affect girls and women and is believed to occur in about 1 in 2,500 female births.  It is a genetic condition and occurs when girls have a X chromosome that is either absent or damaged. It is also known as Ullrich-Turner Syndrome, Monosomy X or simply as TS.

How Do You Know if Someone has Turner Syndrome?

The signs and symptoms of Turner syndrome will be different from one girl to another and some symptoms will not show up until childhood or puberty, while some will be present at birth.

Signs and symptoms for infant girls include:

  • Head/facial features like a high roof of the mouth, ears set low on the head, drooping eyelids, a low hairline at the nape of the neck, and extra folds of skin on the neck (called a webbed neck).
  • Bodily features like short fingers and toes (with toe nails that curl upwards), a wide chest, nipples that are planted far apart and arms that turn outward at the elbows.
  • Skin problems like an excessive number of moles on the skin.

Signs and symptoms of girls, teens and young women can include:

  • Short stature: the average girl with Turner syndrome is around 4’7
  • Delayed or absent puberty without treatment: this means girls will not begin to develop breasts or have their periods or other signs of sexual growth.
  • While most girls with TS have average intelligence, learning disabilities (especially those involving math or spatial relations) as well as behavioral problems, poor social skills and low self-esteem are possible.

What Causes Turner Syndrome?

Most girls are born with two sex chromosomes (one from each parent). In the case of girls, this pair should be XX. Turner Syndrome is happens when a girl is born with one of the X chromosomes missing or damaged or even with some Y-chromosome material attached to it (normally only boys have a Y chromosome). Unlike some genetic conditions, this is not inherited: it happens by a random accident either before or after the baby is conceived.

Are there Any Risk Factors for Turner Syndrome?

Because the mutation/damage to the X chromosome is a random event, there are no risk factors for Turner’s syndrome other than being female. It does not appear to run in families.

Does Turner’s Syndrome Cause Complications?

One of the most difficult parts of Turner Syndrome is the number of possible complications it can cause, affecting nearly every bodily system. Complications can include:

  • Most women with Turner Syndrome cannot get pregnant or have a baby without medical treatment.
  • Heart problems. These include heart defects that someone is born with as well as risk factors for heart disease like high blood pressure.
  • Problems hearing and seeing. Hearing loss from nerve damage as well as problems with far-sightedness and eye muscle weakness are common.
  • Problems with bones and teeth. Girls and women with Turner syndrome are more likely to have problems like scoliosis (curving of the spine) or abnormal development of the teeth.
  • Digestive problems like celiac disease (an inability to digest the protein gluten found in wheat and other grains)
  • Kidney problems, which can lead to an increased chance of urinary tract infections

How Does the Doctor Know if Someone has Turner Syndrome?

Diagnosis of Turner syndrome can happen before or after birth.

Before birth, when a doctor does prenatal screening tests and ultrasounds on a pregnant woman, there can be abnormalities such as the accumulation of fluid at the base of a fetus’s neck that might lead a doctor to suspect some sort of genetic problem. If this is suspected, the doctor can take a sample of amniotic fluid (called an amniocentesis) or a small sample of the placenta (the sac in which the fetus is growing during a pregnancy) to analyze it for problems.

Once a baby is born, if a doctor suspects that Turner syndrome is present, he or she can take a blood sample and have it tested for chromosomes to see if both X chromosomes are present and undamaged.

How is Turner Syndrome Treated?

Unfortunately, because this syndrome is caused by a genetic abnormality, there is no cure for it.

The good news is that, with treatment, some problems with Turner syndrome can be improved. These possible treatments can include:

  • The use of growth hormones to help girls grow to an average height; the earlier this treatment is started in childhood, the more effective it is
  • Use of the female sex hormone called estrogen, which can help girls develop breasts normally and begin their periods.
  • Regular, lifelong checkups with medical professional to monitor general health and to help prevent some of the more serious complications of Turner syndrome.

It is important for families to be aware, however, that because of how complex Turner syndrome is and how many different body systems it can affect, the health care team to treat this condition is usually a large one and may include not only the primary care doctors but gynecologists/women’s health specialists, endocrinologists to regulate and monitor hormones, cardiologists to treat potential heart conditions, nepthrologists to keep the kidneys health and audiologists and ophthamologists to care for hearing and vision difficulty.

So, while Turner syndrome is not fatal, it can cause a number of complications that range from the minor to the serious and can affect virtually every part of the body. However, the good news is that with hormonal treatment and a commitment to lifelong care and monitoring, nearly all girls and women with Turner syndrome can lead healthy, happy lives.