Turner Syndrome

(Monosomy X)


Turner syndrome is a genetic disorder that includes a broad spectrum of features that vary in individuals, but usually has the common findings of short stature and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.


Turner syndrome only occurs in girls and women. Females normally have 2 X chromosomes. Turner syndrome is most commonly caused by a missing X chromosome. It is usually sporadic, meaning that it is not inherited from a parent. In rare cases, a parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter. This is the only situation in which Turner syndrome is inherited.

Risk Factors

There are no other known factors that increase the chance of Turner syndrome.


The main symptoms of this syndrome include:
Fully Developed Female Reproductive System
Female Reproductive Organs
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Other physical features can include:
Other health conditions that can occur include:


Depending on its severity, Turner syndrome may first be diagnosed in infancy, childhood, or adolescence.
The doctor will ask about your symptoms and medical history. A physical exam will be done. A gynecologic exam may also be done.
Your bodily fluids may be tested. This can be done with blood tests.
Images may be taken of your reproductive organs. This can be done with ultrasound.


There is no known cure for Turner syndrome. However, there are treatments for many of the associated problems. These include:

Growth Hormone

If given early enough in childhood, growth hormone can improve growth and increase final adult height by a few inches. However, not all children have a good response to growth hormone. Bone-lengthening surgery can increase the final height of children with Turner syndrome who have not responded adequately to growth hormone. However, this lengthy treatment requires multiple surgeries, long periods of disability, and many potential complications.

Estrogen Replacement Therapy

Estrogen replacement therapy induces the normal physical changes of adolescence, including breast growth and menstrual periods. Women with Turner syndrome usually take estrogen-progesterone treatment until at least menopause to protect their bones from osteoporosis.

Treatment for Other Medical Conditions

Other medical problems are carefully monitored and treated, including:
Other recommendations for life-long management of this disorder include:
  • Cardiac evaluation including both echocardiography and MR angiography should be performed.
  • Puberty should be induced at an age-appropriate time and should not be delayed in hopes of achieving greater adult height.
  • Comprehensive psychological evaluation should be done to detect learning disorders.
  • Lifetime surveillance should include looking for hearing problems, thyroid disease, high blood pressure, diabetes, and cholesterol elevation.


There are no current guidelines to prevent Turner syndrome.


Healthy Children—American Academy of Pediatrics

Turner Syndrome Society of the United States


Caring for Kids—Canadian Paediatric Society

Turner's Syndrome Society of Canada


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 website. Available at: Updated April 24, 2016. Accessed May 5, 2016.

Turner syndrome. National Institute of Child Health and Human Development website. Available at: Accessed May 5, 2016.

Turner syndrome. Nemours Kids Health website. Available at: Updated October 2014. Accessed May 5, 2016.

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