Turner syndrome is a genetic disorder that includes a broad spectrum of features that vary in individuals, but usually has the common findings of short stature and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.
Turner syndrome only occurs in girls and women. Females normally have 2 X chromosomes. Turner syndrome is most commonly caused by a missing X chromosome. It is usually sporadic, meaning that it is not inherited from a parent. In rare cases, a parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter. This is the only situation in which Turner syndrome is inherited.
The main symptoms of this syndrome include:
- Short stature—If the disorder is not treated, the average adult is about 4 feet 8 inches tall.
- Lack of development of the ovaries—The ovaries are the organs that produce eggs for fertilization and female hormones. Most girls with Turner syndrome do not start puberty. Many do not have normal breast development or menstrual periods. Most cannot produce eggs and are infertile.
Other physical features can include:
- Webbed neck
- Low hairline in back
- Abnormal eye features—drooping of eyelids or weak eye muscles with double vision
- Abnormal bone development, for example a shield-shaped, broad, flat chest
- Absent or delayed development of secondary sexual characteristics that normally appear at puberty, including sparse pubic hair and small breasts
- Dental problems
- Decreased tearing
- Absent menstruation
- A single crease in the palm
- Absence of normal moisture in vagina
- Painful intercourse
- Flat feet
- Swelling of the hands and feet, and short fingers and toes—mostly noted at time of birth
Other health conditions that can occur include:
- High blood pressure, even in childhood
- Hearing and other ear problems
- Structural heart abnormalities, especially with the aorta (the main artery in the body)
- Kidney problems
- Thyroid problems
- Osteoporosis, which can lead to height loss, curved spine, and broken bones
- Impaired sense of visual coordination despite normal intelligence
- Celiac disease
- Increased risk for cancer
Depending on its severity, Turner syndrome may first be diagnosed in infancy, childhood, or adolescence.
The doctor will ask about your symptoms and medical history. A physical exam will be done. A gynecologic exam may also be done.
Your bodily fluids may be tested. This can be done with blood tests.
Images may be taken of your reproductive organs. This can be done with ultrasound.
There is no known cure for Turner syndrome. However, there are treatments for many of the associated problems. These include:
If given early enough in childhood, growth hormone can improve growth and increase final adult height by a few inches. However, not all children have a good response to growth hormone. Bone-lengthening surgery can increase the final height of children with Turner syndrome who have not responded adequately to growth hormone. However, this lengthy treatment requires multiple surgeries, long periods of disability, and many potential complications.
Estrogen Replacement Therapy
Estrogen replacement therapy induces the normal physical changes of adolescence, including breast growth and menstrual periods. Women with Turner syndrome usually take estrogen-progesterone treatment until at least menopause to protect their bones from osteoporosis.
Treatment for Other Medical Conditions
Other medical problems are carefully monitored and treated, including:
- Kidney abnormalities
- High blood pressure
- Hashimoto's thyroiditis
Other recommendations for life-long management of this disorder include:
- Cardiac evaluation including both echocardiography and MR angiography should be performed.
- Puberty should be induced at an age-appropriate time and should not be delayed in hopes of achieving greater adult height.
- Comprehensive psychological evaluation should be done to detect learning disorders.
- Lifetime surveillance should include looking for hearing problems, thyroid disease, high blood pressure, diabetes, and cholesterol elevation.
- Reviewer: Kim Carmichael, MD
- Review Date: 05/2016 -
- Update Date: 05/05/2016 -