Turner Syndrome

(Monosomy X)

Definition

Turner syndrome is from a problem with your genes. It has a range of features that differ in each person. Common ones are short height, absent or delayed puberty, and infertility.

Causes    TOP

Turner syndrome happens in girls and women. Females have two X chromosomes. Turner syndrome is most often caused by a missing X. It is most often not passed down from a parent.

In rare cases, a parent silently carries rearranged chromosomes. They can result in Turner syndrome in a daughter. This is the only time in can be passed from a parent.

Risk Factors    TOP

There are no known risks that raise the chance of Turner syndrome.

Symptoms    TOP

Turner syndrome may cause:

  • 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
  • Lack of breast growth
  • Absent periods

Fully Developed Female Reproductive System

Female Reproductive Organs
Copyright © Nucleus Medical Media, Inc.

Adults with Turner syndrome often can’t have children. They may have miscarriages, painful sex, and vaginal dryness. There may also be other health issues, such as heart problems.

Diagnosis    TOP

Turner syndrome may be found before birth or after birth.

The doctor will ask about your symptoms and health history. A physical exam will be done. A gynecologic exam of the mother may also be done.

You may have:

  • Blood tests to look for hormone changes
  • Pictures taken with an ultrasound.
  • Heart function tests before or after birth; This can be done with an echocardiogram.

Treatment    TOP

There is no known cure. Symptoms can be treated with:

Growth Hormone

Children who take growth hormones may be able raise their final adult height by a few inches. It may not help all children.

Bone-lengthening surgery can raise the final height of children. It may help those who do not do well with growth hormone. This can mean many surgeries, disability, and surgical problems.

Hormone Replacement Therapy (HRT)

HRT with estrogen and progesterone may be given. This can help start puberty and spur growth.

Women with Turner syndrome are often on medicines until menopause. It will help protect their bones from getting weak.

Other Care    TOP

Throughout life, tests should be done to look for:

  • Hearing problems
  • Thyroid disease
  • High blood pressure
  • Diabetes
  • Heart problems
  • High cholesterol

Prevention    TOP

Turner syndrome can’t be prevented.

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 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 June 22, 2018. Accessed August 27, 2018.
Turner syndrome. National Institute of Child Health and Human Development website. Available at: https://www.nichd.nih.gov/health/topics/turner. Updated December 1, 2016. Accessed August 27, 2018.
Turner syndrome. Kids Health—Nemours Foundation website. Available at:
...(Click grey area to select URL)
Updated September 2017. Accessed August 27, 2018.
Last reviewed June 2018 by EBSCO Medical Review BoardDaniel A. Ostrovsky, MD
Last Updated: 8/27/2018

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