Turner Syndrome

(Monosomy X)

by Cynthia M. Johnson, MA

Definition

Turner syndrome is a genetic problem. Common problems from it are short height, absent or delayed puberty, and infertility.

Causes

Turner syndrome happens in women. 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 silently carries rearranged chromosomes. 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 chance 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
Lack of breast growth
Absent periods

Fully Developed Female Reproductive System

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 fetus
An echocardiogram to check heart function in the fetus 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 your symptoms and health history. 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

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

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.

Prevention

There are no known guidelines to prevent this health problem.

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:

Gravholt C, Andersen N, Conway G, et al; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177(3):G1-G70.

Turner syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/turner-syndrome. Accessed January 4, 2021.

Turner syndrome. National Institute of Child Health and Human Development website. Available at: https://www.nichd.nih.gov/health/topics/turner. Accessed January 4, 2021.

Turner syndrome. Kids Health—Nemours Foundation website. Available at:
...(Click grey area to select URL)
Accessed January 4, 2021.

Last reviewed December 2020 by EBSCO Medical Review Board Daniel A. Ostrovsky, MD
Last Updated: 01/04/2021