Mercy Hospital & Health Services Contact Us
MyChart
About Mercy
Join Our Team
set font size large set font size medium set font size small
email this page print this page
Health Illustrated Encyclopedia Banner
Health Illustrated Encyclopedia

Disclaimer:
Our Health Information Database is provided by A.D.A.M. the leading provider of electronic and printed information for professionals and consumers in healthcare and industry. It provides authoritative, reliable content written and reviewed by an editorial board who represent a variety of specialty areas. This board reviews and evaluates all healthcare information to ensure it is accurate, reliable, and can be used with complete confidence. And now you have access to the same authoritative, trusted clinical information relied upon by health professionals around the world.
Turner syndrome

Definition

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

Alternative Names

Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X

Causes, incidence, and risk factors

Humans have 46 chromosomes. 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.

Turner syndrome occurs in about 1 out of 2,000 live births.

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

Signs and tests

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

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

The following tests may be performed:

Turner syndrome may also alter various 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.

Support Groups

For additional information and resources, see:

Turner Syndrome Society -- www.turnersyndrome.org

Expectations (prognosis)

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

Complications

Calling your health care provider

Prevention

There is no known way to prevent Turner syndrome.

References

Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician. 2007;76:405-410.

View Spanish Version

Encyclopedia Home
Drug Note Home
Health Information Home

Images

Care Points
    Read More

    Review Date: 10/14/2009

    Review By: Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

    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 endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

    www.adam.com
    www.mercyweb.org
    follow us online
    facebook youtube


    Contact us
    Home  |  Sitemap

    Disclaimer & Terms of Use  |  Privacy Statement  |  Notice of Privacy Practices
    Copyright ©2013 Mercy. Last modified 2/16/2011