Turner Syndrome: Lack of X Chromosome

Turner syndrome is a condition that occurs when a female is lacking a sex chromosome. It can lead to a variety of health problems and medical issues. Most women who suffer from this condition will need ongoing medical care throughout their lives. Those who do get adequate treatment can live healthy, normal lives.

Turner Syndrome Causes

People with Turner syndrome are lacking an X0-chromosome. This is caused by a genetic mutation. Some factors that can cause these mutations to include:

• Monosomy: When there is a problem with the father’s sperm, every cell in the body can have only one X-chromosome.
• Mosaicism: When a problem occurs during the early stages of cell development, it can cause some cells in the body to have two of each chromosome and others to have only one.
• X Chromosome Abnormalities: Problems can occur with either the egg or sperm that can lead to alterations and missing parts of the X chromosome.

Turner Syndrome Symptoms

The symptoms of Turner syndrome can often be detected before birth. Many babies are diagnosed when they are just a few days old. Those who only have mild symptoms may have a delayed diagnosis. The most common symptoms of the disease include:

• Edema on the back of the neck
• Heart abnormalities
• Wide neck
• Ear deformities
• Wide-spaced nipples
• Narrow palate
• Outward-turned arms
• Narrow nails
• Short stature
• Receding jaw
• Low hairline
• Short fingers and toes
• Slow growth
• Failure to start puberty
• Fertility problems

Turner Syndrome Diagnosis

Doctors can diagnose Turner syndrome in a variety of ways. Prenatal diagnosis is possible and fairly common. Doctors can also use a variety of tests to diagnose the disease. Common diagnostic tests include:

• Chorionic villus sampling: This type of test involved taking a small piece of the developing placenta and testing it.
• Amniocentesis: A sample of amniotic fluid is taken from the womb, and the baby’s chromosomes are tested.
• Chromosome testing: In older children and adults, chromosome testing can be done to confirm that a person has or is lacking an X chromosome. This can be done with a cheek scraping or saliva sample.

Turner Syndrome Treatment

There is no cure for Turner syndrome, but there are treatments available to help reduce the chances of a sufferer developing another condition or health problems associated with the disease. These treatments include addressing symptoms of the disease and monitoring the patient for new problems. Some other common treatments include:

• Growth Hormones: Grown hormones can be given to young girls to help them mature and reach an average height. Injections can be given daily from childhood to the girl’s teenage years.
• Estrogen Therapy: Estrogen therapy can be given to girls at a young age and can help breast develop and improve the size of the uterus. I can also help with height.

Turner Syndrome Prognosis

While there is no cure for Turner syndrome, girls who suffer from the disease can live normal lives with the proper treatment. Some women are even able to conceive with the help of fertility treatments.

Additional Resources:

• ACOG: The American College of Obstetricians and Gynecologists