Definition
Turner Syndrome is a genetic disorder of the X chromosomes that occurs only in girls and women. Chromosomes are hereditary material in each cell of the body. They determine characteristics like gender and height. Turner Syndrome affects many parts of the body.
Causes
Females normally have two X chromosomes. Turner Syndrome occurs when a female is missing all or part of one X chromosome. The cause of this chromosome problem is not known. It seems to be a random event and can occur in any female.
Risk Factors
A risk factor is something that increases your chances of getting a disease or condition. The only known risk factor for Turner Syndrome is being female.
Symptoms
Turner Syndrome can cause a wide range of problems from minor to severe. The number, types, and severity of symptoms depend on the type and amount of genetic material that is missing. People with Turner syndrome can have many or only a few symptoms. However, almost all have some degree of:
- Short stature. If the disorder is not treated, the average adult is about 4 feet 8 inches tall.
- Lack of development of the ovaries. The ovaries are the organs that produce eggs and female hormones. Most girls with Turner syndrome do not start puberty at the normal age. Many do not have normal breast development or menstrual periods. Most cannot produce eggs and, as a result, are infertile.
Other physical features can include:
- Webbed neck (extra skin that goes from the tops of the shoulders to the sides of the neck)
- Shield-like chest with widely separated nipples
- Low hairline at the back of the neck
- Ears that are lower than usual on the head, and shaped differently
- Swollen hands and feet
- Variety of bony defects
- Large number of moles on the skin
Other health conditions that can occur include:
- High blood pressure, even in childhood
- Structural heart abnormalities
- Kidney problems
- Thyroid problems
- Osteoporosis, which can lead to height loss, curved spine, and broken bones
- Hearing and other ear problems
- Impaired sense of visual coordination despite normal intelligence
Diagnosis
Depending on its severity, Turner Syndrome may first be diagnosed in infancy, childhood, or adolescence. The doctor asks about the child’s symptoms and medical history, and performs a physical exam. A blood test, called a karyotype, is used to examine the chromosomes for missing material.
Treatment
There is no known cure for Turner syndrome. However, there are treatments that can help reduce the symptoms. These include:
Growth Hormone
If given early enough in childhood, growth hormone can improve growth and increase final adult height.
Estrogen Replacement Therapy
Estrogen replacement therapy induces the normal physical changes of adolescence, including breast growth and menstrual periods. Women with Turner syndrome usually take estrogen-progesterone treatment until at least menopause to protect their bones from osteoporosis.
Treatment for Other Medical Conditions
Other medical problems are carefully monitored and treated. Everyone with Turner syndrome, for example, should have a heart exam every year. Heart surgery can help fix some heart defects. Medications can be given to treat hypothyroidism.
Prevention
There are no guidelines for preventing Turner syndrome.