What is Turner Syndrome?


What is Turner Syndrome fig. 1.

What is Turner Syndrome , fig. 1.

Turner Syndrome is a physical anomaly that only affects females and will cause them to generally be shorter than average and have non-functioning ovaries.

However, Turner Syndrome does not impact IQ, verbal skills or reading and there is no reason a woman with Turner Syndrome cannot live a rich and fulfilling life. Some women with Turner Syndrome can even have a full term pregnancy and deliver a healthy baby with the help of a donated embryo.

Turner Syndrome is a chromosomal condition which, among other things, causes impaired ovarian function. This syndrome often results in characteristic physical anomalies as well, such as a webbed neck, swelling in the hands and feet, heart defects, kidney problems and a malformed skeleton.

Turner Syndrome affects the X chromosome, although researchers continue to study which specific genes on the X chromosome are associated with the syndrome. To date, science has successful identified a particular gene that regulates bone development and growth. This gene, labeled SHOX, probably causes the smaller stature and bone abnormalities of classic Turner syndrome.

Turner syndrome or Ullrich–Turner syndrome is also referred to Gonadal dysgenesis. It is not inherited, but is the result of a random accident while the sperm or egg is forming.


Watch “What is Turner Syndrome” Video at bottom of page.

See the video at the bottom of this page to listen as a young mother tells of her experiences raising an infant with Turner Syndrome.


Turner Syndrome Symptoms.

What is Turner Syndrome fig. 2Girls with Turner syndrome may experience normal growth until they are three or four. Then they will begin to grow more slowly until the age of puberty when most young women usually experience a dramatic growth spurt. Women with Turner Syndrome will not experience the typical adolescent growth spurt.

Another classic symptom of Turner syndrome is ovaries that fail to function. Normally the ovaries begin to produce estrogen and progesterone at puberty, but when a young woman has Turner Syndrome this will not happen, or be largely suppressed. At adolescence, a young woman with Turner Syndrome will not begin menstruation or form breasts unless hormone therapy is administered.

Turner Syndrome does not impact IQ, verbal skills or reading. However, some girls may exhibit a less than average ability in math, memory and finger dexterity.

Although women with Turner Syndrome have inert ovaries and cannot bear children, their genitalia and uterus are usually normal.

Girls with Turner syndrome typically have frequent middle ear infections during early childhood. If these ear infections are not managed aggressively they can result in hearing loss.

Additional Symptoms of Turner Syndrome.

Unusually wide neck that appears webbed.
Low hairline.
Broad torso with widely spaced nipples.
Arms turn out a little at the elbow.
Heart irregularities.
May develop high blood pressure.
Vision problems.
Deformity of the spine.
Underactive thyroid.
An increase rick for diabetes over time.
Weak bones may develop unless hormone replacement therapy is administered.

Turner Syndrome Diagnosis.

Usually, initial diagnosis is made at birth because classic Turner Syndrome physical anomalies are observed by doctors and nurses. Such physical anomalies include a wide or webbed neck, a broad torso with nipples space more widely apart than normal and swelling of hands and feet. Sometimes, heart problems in a new born is the first indication of Turner Syndrome.

Turner Syndrome is indicated by a short body and undeveloped ovaries. Later, a slow rate of growth will also suggest Turner Syndrome. When puberty does not occur, this is a strong indicator of Turner Syndrome.

There is also a blood test for Turner Syndrome and an unborn child can be tested if needed.

Treatment and management of Turner Syndrome.

There is no reason why a woman with Turner Syndrome cannot live a rich and fulfilling life.

Growth hormone administered in early childhood can help some girls with Turner syndrome grow taller than they probably would without the hormone treatment.

At the time of expected puberty, usually around the age of 12, estrogen replacement therapy is recommended so the young woman will develop breasts. Shortly after this, estrogen, along with progesterone is recommended to initiate menstruation which is needed to keep the uterus healthy. Estrogen will also prevent weakening of the bones.

Surgery may be needed in the event of heart murmurs or narrowing of the aorta.

Ear infections, which are more frequent in girls with Turner Syndrome, will need proper medical attention as they occur.

Blood pressure needs to be routinely monitored in girls with Turner Syndrome and treated as necessary. Also, because woman with Turner syndrome have an increased risk of an under active thyroid and of developing diabetes, these need to be routinely monitored as well.

Regular health checks are essential, preferably at a clinic that specializes in Turner Syndrome.

While women with Turner Syndrome are infertile, it is possible for them to become pregnant with a donor embryo.

What causes Turner Syndrome?

The precise cause of Turner Syndrome is not well understood, however, it appears to be the result of a random error that happens when either the egg or sperm is formed.

Research shows that Turner Syndrome is not usually inherited.

What is Turner Syndrome Video.

The mother of a baby with Turners Syndrome answers the question in detail, “What is Turner Syndrome?” and tells of her experiences.


For more information visit What is Turner Syndrome.

Online supportive community can be found here, Turner Syndrome Support

What is Turner Syndrome fig. 3.

What is Turner Syndrome Photo Credits:

What is Turner Syndrome fig. 1 by IdyBug63


What is Turner Syndrome fig. 2 by Martine LaBar


What is Turner Syndrome fig. 3