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Turner Syndrome
Alternate Names : Bonnevie-Ullrich Syndrome, Gonadal Dysgenesis, Monosomy X
Definition
Turner syndrome is a birth defect caused by the absence of an X chromosome in some or all cells of a female, which inhibits sexual development and usually causes infertility.
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Overview, Causes, & Risk Factors
A person's sex is determined by two chromosomes, the X and the Y. Usually, men have an X and a Y, while women have two X's. In Turner syndrome, a baby girl develops with only one X chromosome. The incidence is 1 out of 3,000 live births.
Turner syndrome usually occurs sporadically, which means that the mutation occurs in fetal development and is not inherited from either 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.
Girls with Turner syndrome usually have short stature, webbing of the skin of the neck, absent or retarded development of secondary sexual characteristics at puberty, absence of menstruation, coarctation (narrowing) of the aorta, bicuspid aortic valve, and abnormalities of the eyes and bones. The condition is either diagnosed at birth because of the associated anomalies, or at puberty when there is absent or delayed menses and delayed development of normal secondary sexual characteristics.
IQ is generally normal although some children have learning difficulties. More than half of all patients with Turner syndrome are mosaics, which means that the mutation occurs in some but not all of the cells of their body. This means that it can vary in severity since the fewer cells affected, the more mild the disease will be.
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• Definition
• Turner Syndrome Overview, Causes, & Risk Factors
• Turner Syndrome Symptoms & Signs
• Turner Syndrome Prevention
• Turner Syndrome Diagnosis & Tests
• Turner Syndrome Treatment
• Turner Syndrome Prognosis
• Turner Syndrome Complications
• Turner Syndrome Support Groups
• Calling Your Health Care Provider
• Pictures & Images
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Review Date : 2/5/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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