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Turner Syndrome

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Turner Syndrome

(Monosomy X)

Definition

Turner syndrome is a genetic problem. Common problems from it are short height, absent or delayed puberty, and infertility. The condition can also lead to heart and blood vessel problems. These can be life-threatening.

Causes

Turner syndrome happens in girls and women. Girls and women have two X chromosomes. Turner syndrome is caused by a missing, partially missing, or changed X. It is not usually inherited from a parent.

Rarely, a parent carries changed chromosomes without knowing it. This can result in Turner syndrome in a daughter. It can only be inherited from a parent when both parent X chromosomes have been passed on.

Risk Factors

There are no known risks that raise the risk of this health problem.

Symptoms

Problems may be:

  • Swelling of the hands and feet
  • Folds of skin at the neck
  • Low hairline in back
  • A broad chest with widely spaced nipples
  • Problems feeding
  • Short stature
  • Learning problems
  • Slowed sexual growth, which includes
    • Lack of breast growth
    • Absent periods
Fully Developed Female Reproductive System.

Copyright © 2002 Nucleus Communications, Inc. All rights reserved.

Female Reproductive Organshttp://services.epnet.com/getimage.aspx?imageiid=24622462si55550940.jpgFemale Reproductive OrgansNULLjpgFemale Reproductive OrgansNULL\\filer01\Intellect\images\si55550940.jpgCopyright © 2002 Nucleus Communications, Inc. All rights reserved.20NULL2002-10-012553912462_22503Copyright © Nucleus Medical Media, Inc.

Adults with Turner syndrome often cannot have children.

Diagnosis

Turner syndrome may be found before birth using prenatal screenings, such as:

  • Blood tests
  • An ultrasound to look at the unborn baby
  • An echocardiogram—to check heart function in the baby before or after birth

The doctor may also suspect Turner syndrome based on a child's features at birth. A blood test will be done to confirm it.

In adults, the doctor will ask about symptoms and past health. A physical exam will be done. This may be enough to suspect the diagnosis. A blood test will be done to confirm it.

Treatment

There is no known cure. Monitoring will be needed throughout life.

The goal of treatment is to manage symptoms. Options are:

  • Growth hormone—may help some children raise their adult height
  • Hormone replacement therapy (HRT)—can help start puberty and spur growth; may also be taken until menopause to keep bones strong

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Gravholt CH, Viuff MH, et al. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019;15(10):601-614.
  • Turner syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/turner-syndrome.
  • Turner syndrome. Kids Health—Nemours Foundation website. Available at: https://www.kidshealth.org/en/parents/turner.html.
  • Turner syndrome. National Institute of Child Health and Human Development website. Available at: https://www.nichd.nih.gov/health/topics/turner.

Contributors

  • Daniel A. Ostrovsky, MD
Last Updated:
2022-09-01

(C) Copyright 2022 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.