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A.D.A.M. Medical Encyclopedia [Internet]. Atlanta (GA): A.D.A.M.; 2013.

A.D.A.M. Medical Encyclopedia.

Turner syndrome

Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X

Last reviewed: February 3, 2014.

Turner syndrome is a rare genetic condition in which a female does not have the usual pair of two X chromosomes.

Causes

The normal amount of human chromosomes is 46. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).

In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.

Symptoms

Possible symptoms in young infants include:

  • Swollen hands and feet
  • Wide and webbed neck

A combination of the following symptoms may be seen in older females:

  • Absent or incomplete development at puberty, including sparse pubic hair and small breasts
  • Broad, flat chest shaped like a shield
  • Drooping eyelids
  • Dry eyes
  • Infertility
  • No periods (absent menstruation)
  • Short height
  • Vaginal dryness, can lead to painful intercourse

Exams and Tests

Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if a chromosome analysis is done during prenatal testing.

The doctor will perform a physical exam and look for signs of poor development. Infants with Turner syndrome often have swollen hands and feet.

The following tests may be performed:

Turner syndrome may also change estrogen levels in the blood and urine.

Treatment

Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, pubic hair, and other sexual characteristics.

Women with Turner syndrome who wish to become pregnant may consider using a donor egg.

Outlook (Prognosis)

Those with Turner syndrome can have a normal life when carefully monitored by their doctor.

Possible Complications

Prevention

There is no known way to prevent Turner syndrome.

References

  1. Bacino CA, Lee B. Turner syndrome. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 76.

Review Date: 2/3/2014.

Reviewed by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsementscof those other sites. © 1997–2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Copyright © 2013, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsementscof those other sites. © 1997–2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Copyright © 2013, A.D.A.M., Inc.

What works?

  • Recombinant growth hormone for children and adolescents with Turner syndromeRecombinant growth hormone for children and adolescents with Turner syndrome
    Turner syndrome (TS) is a genetic disorder affecting the sexual development and appearance of girls and women. Women with TS are much shorter than other women (by about 21 cm or eight inches). To try to overcome slow growth, recombinant growth hormone (hGH) has been given. The hormone is injected under the skin several times a week until final adult height is achieved. The review found some evidence that hGH does increase short‐term growth in girls with TS and adult height (an increase of perhaps five centimeters or two inches). However, girls treated with hGH are still substantially shorter than other women as adults. Final height in 61 treated women was 148 cm and 141 cm in 43 untreated women.
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