Turner syndrome is a condition that is present at birth and only affects females. The cause of this syndrome is the complete or partial absence of one of the two X chromosomes. This condition can cause a broad array of features and symptoms, from minor cosmetic issues to major heart defects. The amount of features and symptoms is different for each woman. Almost all women with this syndrome have short stature and loss of ovarian function.
Turner syndrome occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths). Prenatal testing has probably decreased the number of diagnosed cases of Turner syndrome.
The cause of this syndrome is the complete or partial absence of one of the two X chromosomes (sex chromosomes).
About half of the individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes
(see X Chromosome Monosomy).
Some women with this syndrome have a chromosomal change in only some of their cells, which is known as X chromosome mosaicism
(see Mosaic Turner Syndrome).
Symptoms of Turner Syndrome
Symptoms vary among individual women. Symptoms can range from minor cosmetic issues to major heart defects. Some women may have many symptoms, while others may only have a few.
Symptoms of Turner syndrome can include:
- Short stature
- Extra skin on the neck (webbed neck)
- Puffiness or swelling (lymphedema) of the hands and feet
- A low hairline at the back of the neck
- Low-set ears
- Hands and feet swollen or puffy at birth
- Soft nails that turn upward at the ends when at an older age
- Colored spots on the skin
- Problems with breast development
- Infertility
- Short fingers and toes
- Irregular rotation of wrist and elbow joints.
(Click Symptoms of Turner Syndrome for more information.)
People with Turner syndrome are at increased risk for developing:
Because of these increased risks, the doctor will recommend regular screening appointments to check for these conditions. By diagnosing and treating these conditions early, the impact Turner Syndrome has on a woman can be lessened.
Diagnosing Turner Syndrome
A doctor can suspect that a person has this condition based on the presence of
Turner syndrome features or symptoms. A diagnosis is confirmed with special blood tests.
When a diagnosis is made, it will vary based on the severity of the patient's condition. A diagnosis can be made during prenatal testing. Girls with several Turner syndrome features may be diagnosed during infancy or early childhood. For women with milder Turner syndrome, a diagnosis may occur later in life.
Any girl who is very short for her age or who is growing at less than two inches per year should be checked for Turner syndrome.
Because Turner syndrome is a problem with the chromosomes, there is no cure. Therefore, treatments focus on controlling the features and symptoms of the disorder.
Treatment may include:
- Regular screening
- Medications
- Surgery
- Counseling and support.
(Click Treatments for Turner Syndrome for more information.)
The prognosis for Turner syndrome can be good with careful and consistent monitoring of the person's health and early treatment of problems that can occur. Many women with this syndrome lead full and active lives and can expect a normal lifespan.
Many factors can affect a person's prognosis, including:
(Click Prognosis for Turner Syndrome for more information.)
Turner Syndrome is named after an endocrinologist from Oklahoma, named Henry Turner, who described Turner Syndrome in the 1940s. In Europe, Turner syndrome often goes by other names, to give credit to earlier cases described by European doctors. These names include Ullrich-Turner syndrome and Bonnevie-Ullrich-Turner syndrome.
Other Names for Turner Syndrome
Other names used for this syndrome include:
- Bonnevie-Ullrich Syndrome
- Monosomy X
- TS
- Turner's syndrome
- Ullrich-Turner syndrome
- 45,X.
