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Turner Syndrome

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Definition

Turner syndrome is a genetic disorder that includes a broad spectrum of features that vary in individuals, but usually have the common findings of short stature and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.

Causes

Turner syndrome only occurs in girls and women. Females normally have two 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

There are no known factors that increase the risk of Turner syndrome, other than being female.

Symptoms

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
  • 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
  • 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—mostly noted at time of birth

Other health conditions that can occur include:

  • High blood pressure, even in childhood
  • Structural heart abnormalities
  • Kidney problems
  • Thyroid problems
  • Osteoporosis , which can lead to height loss, curved spine, and broken bones
  • Hearing and other ear problems
  • Impaired sense of visual coordination despite normal intelligence
  • Celiac disease
  • Increased risk for cancer

Diagnosis

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.

Treatment

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 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:

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

  • Cardiac evaluation including both echocardiography and magnetic resonance 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 be carried out looking for hearing problems, thyroid disease, hypertension , diabetes, and cholesterol elevation.

Prevention

There are no guidelines for preventing Turner syndrome.

Revision Information

  • American Academy of Pediatrics

    http://www.healthychildren.org

  • Turner Syndrome Society of the United States

    http://www.turnersyndrome.org

  • Caring for Kids

    The Canadian Paediatric Society

    http://www.caringforkids.cps.ca

  • Turner's Syndrome Society of Canada

    http://www.turnersyndrome.ca/

  • Bondy C. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab. 2006 Oct 25.

  • Hahn SB, Park HW, Park HJ, Seo YJ, Kim HW. Lower limb lengthening in Turner dwarfism. Yonsei Med J . 2003 Jun 30;44(3):502-7.

  • Turner Syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated May 24, 2013. Accessed July 24, 2013.

  • Turner syndrome. National Institute of Child Health and Human Development website. Available at: http://turners.nichd.nih.gov/ . Accessed July 24, 2013.

  • Turner syndrome. Nemours' KidsHealth website. Available at: http://kidshealth.org/parent/medical/sexual/turner.html#a%5FHelping%5FYour%5FDaughter . Updated September 2011. Accessed July 24, 2013.