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.
The main symptoms of this syndrome include:
Fully Developed Female Reproductive System
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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:
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 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.
Other medical problems are carefully monitored and treated, including:
Other recommendations for life-long management of this disorder include:
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 Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T116917/Turner-syndrome. Updated April 24, 2016. Accessed May 5, 2016.
Turner syndrome. National Institute of Child Health and Human Development website. Available at: http://turners.nichd.nih.gov. Accessed May 5, 2016.
Turner syndrome. Nemours Kids Health website. Available at: http://kidshealth.org/parent/medical/sexual/turner.html. Updated October 2014. Accessed May 5, 2016.
Last reviewed May 2016 by Kim Carmichael, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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