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.
There are no other known factors that increase the chance of Turner syndrome.
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.
Fully Developed Female Reproductive System
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.
There are no current guidelines to prevent Turner syndrome.
Healthy Children—American Academy of Pediatrics
Turner Syndrome Society of the United States
Caring for Kids—Canadian Paediatric Society
Turner's Syndrome Society of Canada
Bondy C, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab. 2007;92(1):10-25.
Hahn SB, Park HW, Park HJ, Seo YJ, Kim HW. Lower limb lengthening in Turner dwarfism. Yonsei Med J. 2000;44(3):502-507.
Turner syndrome. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T116917/Turner-syndrome. Updated April 24, 2016. Accessed May 5, 2016.
Turner syndrome. National Institute of Child Health and Human Development website. Available at: http://turners.nichd.nih.gov. Accessed May 5, 2016.
Turner syndrome. Nemours Kids Health website. Available at: http://kidshealth.org/parent/medical/sexual/turner.html. Updated October 2014. Accessed May 5, 2016.
Last reviewed May 2016 by Kim Carmichael, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.