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Turner Syndrome

(Monosomy X)

Definition

Turner syndrome is a genetic disorder that includes a broad spectrum of features that vary in individuals. Common features include short stature and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.

Causes    TOP

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.

Risk Factors    TOP

There are no known factors that increase the chance of Turner syndrome.

Symptoms    TOP

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

Female Reproductive Organs
Copyright © Nucleus Medical Media, Inc.

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
  • Infertility
  • 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

Diagnosis    TOP

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.

Blood tests will be done to look for any hormone changes.

An ultrasound may be done to create images of the reproductive organs.

Treatment    TOP

There is no known cure for Turner syndrome. However, there are treatments for many of the associated problems. These include:

Growth Hormone

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 well to growth hormone. This treatment requires multiple surgeries, long periods of disability, and many potential complications.

Estrogen Replacement Therapy

Estrogen replacement therapy creates 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    TOP

Other medical problems are carefully monitored and treated, including:

Other recommendations for life-long management of this disorder include:

  • Cardiac evaluation including both echocardiography and MR angiography should be performed.
  • Puberty should be medically started 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.

Prevention    TOP

There are no current guidelines to prevent Turner syndrome.

RESOURCES:

Healthy Children—American Academy of Pediatrics
http://www.healthychildren.org
Turner Syndrome Society of the United States
http://www.turnersyndrome.org

CANADIAN RESOURCES:

Caring for Kids—Canadian Paediatric Society
http://www.caringforkids.cps.ca
Turner's Syndrome Society of Canada
http://www.turnersyndrome.ca

References:

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:
...(Click grey area to select URL)
Accessed May 5, 2016.
Turner syndrome. Nemours Kids Health website. Available at:
...(Click grey area to select URL)
Updated October 2014. Accessed May 5, 2016.
Last reviewed November 2017 by EBSCO Medical Review Board Michael Woods, MD, FAAP
Last Updated: 11/14/2017

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