Turner syndrome is rare genetic disorder that’s found only in girls. It can cause problems ranging from short height to heart defects. Sometimes, the symptoms are so mild that women don’t get a diagnosis until they are teens or young adults.
The condition can cause symptoms throughout your life, but treatments and continued research help people manage their condition.
What Causes It?
Turner syndrome happens when a female is missing certain genes that are normally on the X chromosome. (Females have two X chromosomes. Males have an X and a Y).
Some girls with Turner are actually missing a whole copy of the X chromosome. For others, just part of one containing the particular set of genes is missing.
Research has found that almost 99% of babies missing the chromosome are miscarried. But about 1% of the time, these babies are born, and they have the syndrome.
About 70,000 U.S. women and girls live with it.
Signs of Turner syndrome can start even before birth, and they give parents some idea that their baby might be born with the condition. An ultrasound of a baby with it may show heart and kidney problems or a buildup of fluid.
At birth or during infancy, girls might have a number of physical features that point to the condition. Swollen hands and feet or smaller than average height at birth are among them. Others include:
- A wide or weblike neck with extra folds of skin
- Receding or small lower jaw and a high, narrow roof of the mouth (palate)
- Low-set ears and a low hairline
- Broad chest with widely spaced nipples
- Arms that turn outward at the elbows
- Short fingers and toes and narrow fingernails and toenails
- Delayed growth
In older females, throughout the lifespan, symptoms can continue, and may include:
Beginning at birth and continuing throughout a person’s life, Turner syndrome can be linked with other health conditions, including heart, kidney, immune, and skeletal problems. Problems might include:
- Heart problems because of its physical structure
- Increased chance of diabetes and high blood pressure
- Hearing loss
- Kidney problems that can raise the chance of high blood pressure and urinary tract infections
- Immune disorders such as diabetes, inflammatory bowel disease, and hypothyroidism (when your thyroid gland can’t make enough hormone to keep your body running as it should)
- Bleeding in the digestive tract
- Dental and vision problems
- Scoliosis, which is a curving of the spine, and osteoporosis, which causes brittle bones
- Learning disabilities
Diagnosis and Testing
If an ultrasound shows something abnormal while you’re pregnant, your doctor may want you to get an amniocentesis. This is when protective fluid that surrounds a baby is taken from the uterus. Your doctor also may order a test of maternal blood. This can help find out whether the baby is missing all or part of an X chromosome.
Because of the problems linked to Turner syndrome, doctors will also often suggest tests for the kidneys, heart, and hearing.
Medical care often calls for a team of specialists that’s built around the specific needs of each person, because the cases vary so widely.
There’s no cure, but most girls will take the same main therapies during childhood and the teen years. These are:
- Growth hormone , given as an injection a few times a week, to increase height as much as possible.
- Estrogen therapy, beginning around the time of puberty until a woman reaches the average age of menopause. This hormone treatment can help a woman grow and reach adult sexual development.
Almost all women with the condition need fertility treatments to become pregnant. And carrying a child can come with health risks. If you have Turner syndrome, you should discuss those issues with your doctor.