Research Studies from ClinicalTrials. References Bondy CA. New issues in the diagnosis and management of Turner syndrome. Rev Endocr Metab Disord. Turner syndrome Horm Res. Epub Jan J Clin Endocrinol Metab. Epub Oct Turner syndrome: an update and review for the primary pediatrician.
Clin Pediatr Phila. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Epub Sep 7. Cognitive profile of Turner syndrome.
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Skip to main content. Genetic conditions. Home Genetic conditions. Turner's syndrome. Actions for this page Listen Print. Summary Read the full fact sheet. On this page. The main characteristics include short stature and infertility. Usually, a female has two X chromosomes. The effects and severity of the condition vary widely, depending on the degree of chromosomal abnormality. However, the occurrence of this abnormality before birth may mean it is more common than generally thought.
It has been estimated that only one per cent of fetuses with this abnormality survive to term and as many as 10 per cent of miscarriages have this chromosomal abnormality. Humans have 46 paired chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors. Our estimated 30, genes are beaded along these tightly bundled strands.
The chromosomes contain genes, which determine an individual's characteristics, such as eye color and height. Girls typically have two X chromosomes or XX , but girls with Turner syndrome have only one X chromosome or are missing part of one X chromosome.
Turner syndrome is not caused by anything a girl's parents did or did not do. The disorder is a random error in cell division that happens when a parent's reproductive cells are being formed. Girls born with the X condition in only some of their cells have mosaic Turner syndrome. Often, their signs and symptoms are milder than those of other girls with the X condition. The condition is named for Dr. Henry Turner, an endocrinologist, who in noted a set of common physical features in some of his female patients.
Most girls with Turner syndrome who don't get treatment are shorter than their peers, with an average final adult height of 4 feet 7 inches. Girls who have Turner syndrome don't have typical ovarian development.
Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with TS won't go through all the changes associated with puberty unless they get treatment for the condition. Nearly all girls will be infertile, or unable to become pregnant on their own. Other health problems that may happen with TS include kidney problems, heart problems, high blood pressure , obesity , diabetes mellitus, vision problems, thyroid problems, and abnormal bone development.
Some girls with TS may have learning problems, particularly in math. Many also struggle with tasks requiring spatial skills, such as map reading or visual organization. Some girls also have problems with body image or self-esteem. Girls with Turner syndrome are usually diagnosed either at birth or around the time they might be expected to go through puberty. If a baby girl has some of the signs of Turner syndrome, a doctor will usually order a special blood test called a karyotype pronounced: CARE-ee-oh-tipe.
The test counts the number of chromosomes and can identify any that are abnormally shaped or have missing pieces. In some cases, there are no clear signs that a girl has the condition until she reaches the age at which she would normally go through puberty.
To diagnose Turner syndrome, doctors use a special blood test that looks at chromosomes, called a karyotype. If the karyotype blood test shows that a girl has Turner syndrome, her doctor may order more tests to check for problems with the kidneys, heart, hearing, and other problems that are often associated with Turner syndrome. Because TS is a chromosomal disorder, there's no cure for the condition.
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