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Turner Syndrome(Monosomy X)
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Cynthia M. Johnson, MA DefinitionTurner syndrome is a genetic problem. Common problems from it are short height, absent or delayed puberty, and infertility. CausesTurner 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 FactorsThere are no known risks that raise the chance of this health problem. SymptomsProblems may be:
Adults with Turner syndrome often cannot have children. DiagnosisTurner syndrome may be found before birth using prenatal screenings, such as:
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. TreatmentThere is no known cure. Monitoring will be needed throughout life. The goal of treatment is to manage symptoms. Options are: Growth HormoneChildren 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. PreventionThere 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 | |