What is Turner syndrome?

Turner syndrome is a rare genetic disorder that only affects girls. This can cause problems ranging from short stature to heart defects. Sometimes the symptoms are so mild that they are not diagnosed until the woman is a teenager or young adult.

The disease can cause lifelong symptoms, but ongoing treatment and research is helping people manage their disease.

Causes of Turner syndrome

Turner syndrome occurs when a woman is missing certain genes that are normally found on the X chromosome (women have two X chromosomes. Men have an X and a Y).

Some girls with Turner's disease are actually missing an entire copy of the X chromosome, while others are missing only a part of the chromosome that contains a certain set of genes. Various ways in which genes are affected include:

Monosomy. A problem with mom's egg or dad's sperm causes the X chromosome to be missing from every cell in the body.
Mosaicism. When cells don't divide properly in the early stages of fetal development, some cells in the body get two complete copies of the X chromosome, while other cells only have one copy.
X Chromosome Abnormalities: Cells have one complete copy and one abnormal or missing copy of the X chromosome.
Y chromosome material. In some cases, some cells receive a copy of the X chromosome, and other cells receive a copy of the X chromosome and Y chromosome material. Biologically, you develop as a woman. Y chromosome material increases the risk of developing a cancer called gonadoblastoma.

Studies have shown that almost 99% of children who are missing a chromosome have a miscarriage. But in about 1% of cases, these children are born with the syndrome.

Symptoms of Turner Syndrome

Signs of Turner syndrome may appear before birth and give parents the idea that their child may be born with the condition. An ultrasound of a child who has it may show heart and kidney problems or fluid buildup.

DNA testing using a blood sample from the mother can also detect Turner syndrome before birth.

At birth or during infancy, girls may have a number of physical characteristics that indicate the disease. Among them are swollen hands and feet or below average height at birth.

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
Heart defects
Down-turning eyelids
Short roots of teeth
Kidney abnormalities
Greater than usual number of moles on the skin

In older females, throughout the lifespan, symptoms can continue. They can include:

No growth spurts at expected times in childhood
A shorter height than might be expected based on parents’ height
Learning disabilities
Inability to go through puberty normally (because of ovarian failure)
Loss of menstrual cycles
Infertility

Complications of Turner syndrome

Starting at birth and continuing throughout a person's life, Turner syndrome can be associated with other health conditions. They may 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
High blood pressure
Mental health issues
Obesity

Women with Turner's disease have trouble conceiving. If you can get pregnant, you may have problems with high blood pressure and gestational diabetes.

Diagnosis of Turner's syndrome

If an ultrasound shows anything abnormal during pregnancy, your doctor may want to examine your baby's chromosomes using a karyotype. This test compares chromosomes by aligning them. To get samples from you, your doctor may recommend:

Amniocentesis. This is when the protective fluid surrounding the baby is taken from the uterus.
Blood sample. This can help determine if a child is missing all or part of the X chromosome.
Chorionic villus sampling. Your doctor takes tissue samples from part of the placenta for testing. This test is usually done at 10-12 weeks pregnant.
Cheek scraping or skin sample. Your doctor may test you using cells, a scraping from the inside of your cheek (buccal swab), or a sample of skin cells.

If the diagnosis is not made before or at birth, other laboratory tests that check hormones, thyroid function, and blood sugar levels can help diagnose it.

Because of problems with Turner syndrome, doctors often suggest kidney, heart, and hearing tests as well.

Treatment of Turner's syndrome

Medical care often requires a team of specialists tailored to the specific needs of each individual, as cases vary greatly.

There is no cure, but most girls will go through the same basic treatments during childhood and adolescence. These are:

Growth hormone is given as an injection several times a week to maximize growth.
Estrogen therapy from puberty until a woman reaches the middle age of menopause. This hormone therapy can help a woman grow taller and reach mature sexual development.

Almost all women with this condition require fertility treatment in order to become pregnant. And bearing a child can be associated with health risks. If you have Turner syndrome, you should discuss these issues with your doctor.