Turner syndrome, a condition that affects only girls and women, results from a missing or incomplete sex chromosome. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure to begin puberty, infertility, heart defects and certain learning disabilities.
Turner syndrome may be diagnosed during infancy or early childhood. But, sometimes diagnosis is delayed in adolescent girls or young women with mild signs and symptoms of Turner syndrome.
Nearly all girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead relatively healthy, independent lives.
At birth or during infancy
In older girls, adolescents and young women
When to see a doctor
Most people are born with two sex chromosomes. A boy inherits the X chromosome from his mother and the Y chromosome from his father. A girl inherits one X chromosome from each parent. If a girl has Turner syndrome, one copy of the X chromosome is missing or significantly altered. The genetic alterations of Turner syndrome may be one of the following:
Effect of the chromosomal errors
The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.
Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.
Turner syndrome can affect the proper development of several body systems. A number of complications may occur, including:
Preparing for your appointment
How you learn if your daughter has Turner syndrome will depend on the degree to which it has affected her development. If certain conditions — such as a webbed neck or other distinct physical features — are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
Your family doctor or pediatrician may suspect the disorder later in your daughter's childhood if she isn't growing at an expected rate or isn't beginning puberty at an expected time.
Well-baby visits and annual checkups
Questions you may be asked by your daughter's doctor might include the following:
Talking to your doctor about Turner syndrome
Tests and diagnosis
If your family doctor or pediatrician suspects that your daughter has Turner syndrome, a laboratory test will likely be done to analyze your daughter's chromosomes using cells from a blood sample. The test results are a specialized image (karyotype) that enables a specialist to count and judge the condition of each chromosome in a sample.
However, prenatal testing poses some risk to the fetus, and can lead to a false-positive result. Discuss the benefits and risks of prenatal testing with your doctor.
Health care team
Treatments and drugs
The primary treatments for nearly all girls and women include hormone therapies:
Transition to adult care
Periodic follow-up with a heart specialist (cardiologist) is important, as are regular ultrasounds of the heart (echocardiography). This test uses sound waves to produce an image of the heart, allowing the cardiologist to make sure your daughter's heart is healthy.
Pregnancy and fertility treatment
Some women with Turner syndrome can become pregnant with the donation of an egg or embryo. This requires a specially designed hormone therapy to prepare the uterus for pregnancy.
In most cases, women with Turner syndrome have relatively high-risk pregnancies. It's important to discuss those risks with your doctor.
Coping and support
Because your daughter may look different from her peers, she may find it sometimes difficult to cope with having Turner syndrome. You as a parent also may have difficulties coping. You'll likely have many concerns about your daughter's health, social interactions, friendships, education and general well-being.
The Turner Syndrome Society of the United States and other organizations provide educational materials, resources for families and information about support groups. Groups for parents provide an opportunity to exchange ideas, develop coping strategies and locate resources. Peer groups for girls with Turner syndrome can help reinforce your daughter's self-esteem and provide her with a social network of people who understand her experience with Turner syndrome.
Last Updated: 2011-08-20
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