Can you prevent turner syndrome

The loss or abnormality of the X chromosome occurs spontaneously at conception when the egg is fertilized. The missing or altered X chromosome causes errors during fetal development and in development after birth. Having one child with TS does not increase the risk of having other children with the condition.

It is thought that the risk of having TS is the same for all females, regardless of ethnicity or location. It occurs randomly, it is not associated with parental age, and there are no known toxins or environmental factors that appear to affect the risk. During pregnancy, an ultrasound test may reveal signs of TS. Amniocentesis or chorionic villus sampling CVS are antenatal tests that can detect chromosomal abnormalities.

If an infant has a wide or webbed neck, a broad chest, and widely spaced nipples, or if, as a girl grows, she has a short stature and undeveloped ovaries, TS may be present. A karyotype blood test can detect extra or missing chromosomes, chromosomal rearrangements, or chromosomal breaks. This may be done by taking a sample of the amniotic fluid while the baby is still in the uterus, or by taking a blood sample after birth.

If one X chromosome is missing or incomplete, TS is confirmed. Turner syndrome is a genetic condition with no cure, but treatment may help resolve issues with short stature, sexual development, and learning difficulties. Early preventive care is important to reduce the risk of complications. Blood pressure and the thyroid gland need frequent monitoring, and any necessary treatment must be given immediately.

Treatment for inner ear infections with an ear nose and throat ENT specialist can minimize the risk of hearing difficulties later in life. Hormone therapy may include estrogen, progesterone, and growth hormones.

An endocrinologist or pediatric endocrinologist can provide these. Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life. The best age to start this has not been confirmed, but treatment commonly starts from the age of 9 years. Estrogen and progesterone replacement therapy will enable sexual development and reduce the risk of osteoporosis. Blood tests can show how much hormone the patient is producing naturally.

Estrogen replacement therapy will start at the onset of puberty, around 14 years of age, starting with low doses that slowly increase. Progesterone therapy, given later, can trigger menstruation. It may be given as tablets, injections, or patches. Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics. Almost all girls with Turner syndrome:.

As height and sexual development are the 2 main things affected, Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty , usually between the ages of 8 and 14 years. Other characteristics of Turner syndrome can vary significantly between individuals. Read more about the symptoms of Turner syndrome and how Turner syndrome is diagnosed. Finally, most women with Turner syndrome are infertile, although they may become pregnant following assisted reproductive technology involving in vitro fertilization with a donor egg.

However, women with Turner syndrome are also at increased risk for high blood pressure and aortic dissection during pregnancy. Turner syndrome affects only those born female. Although it is the most common genetic disorder in females, it occurs in only approximately one in 2, newborn girls worldwide. There are no known racial or ethnic differences that influence the frequency of Turner syndrome, but the prevalence of Turner syndrome in Black, Indigenous, and People of Color BIPOC communities has not been widely studied.

However, a survey of births in North Carolina over a five-year period found that the condition was most common in American Indian infants 5. The same analysis found that 1. Meanwhile, 1. A variety of chromosomal abnormalities can occur when the egg or the sperm is formed or during the early developmental stages of the fetus.

In some cases, the abnormality causes the baby to have an extra chromosome — or three of a given chromosome rather than the usual two. Down syndrome is an example of a disorder in which most people who have it have three copies of chromosome 21 instead of two. In other cases, the abnormality involves a section of a chromosome being either deleted or duplicated.

Many chromosomal abnormalities result in birth defects and developmental delays. They are also a major cause of miscarriages and stillbirths. But many individuals born with chromosomal abnormalities also go on to live normal, happy, and productive lives. If your child is born with a genetic or chromosomal disorder, ask your healthcare provider what treatments and other services are available to you and your child. For some children, various types of therapies, such as physical therapy and speech therapy, and special educational programs can assist in their growth and development.

And for parents and other family members, joining a support group for similarly affected families can be invaluable. Turner Syndrome Society of the United States. It also has a link to the Turner Syndrome Research Registry.

MassGeneral offers basic information about Turner syndrome and its common complications, as well as advice on driving safely when you have Turner syndrome.

Turner Syndrome Foundation. The Turner Syndrome Foundation is an advocacy organization that supports research into Turner syndrome and offers support for those who have it via the Star Sisters program.

Turner Syndrome Global Alliance. The TSGA was founded by parents of girls with Turner syndrome to increase resources available to adults with Turner syndrome and to raise interest in and funds for research on the condition. The Magic Foundation.

The Magic Foundation provides support services to families of children with a variety of conditions that affect their growth, including Turner syndrome. Additional reporting by Brian P. By subscribing you agree to the Terms of Use and Privacy Policy. Health Topics. Health Tools. Turner Syndrome. Without it, a girl with TS will not develop sexually.

This includes breast development, menstrual periods, and growth of pubic hair and hair elsewhere on the body. Most girls will need to be treated with estrogen at some point for a normal progression of puberty and sexual development. Other common problems with TS affect the heart, kidney, and thyroid. About 1 in 10 girls with TS is born with coarctation of the aorta.

This means the main artery that leaves the heart is narrowed. This problem sometimes needs to be fixed with surgery. Girls with TS generally have normal intelligence. They tend to score higher on their verbal IQ than their nonverbal IQ. But they may have problems with spatial perception. They may also have certain learning disabilities. In general, a woman who has a child with Turner syndrome is not at increased risk of having another baby with the condition.

TS is often not inherited in families. It happens randomly. If your baby girl is born with TS, there are things you can do to take care of yourself and your baby. Your child may receive care from a multidisciplinary team that may include experts such as counselors, social workers, genetic counselors, physical therapists, and speech therapists. Reach out for support from local community services. Being in touch with other parents who have a daughter with TS can also be helpful.

If your child has any of the complications listed above, she will need screening and monitoring at periodic intervals. Make sure you understand the monitoring schedule that applies to your child. But they are shorter than most girls.