Depending on the specific gene s that are missing, features of Turner syndrome may or may not be present. A deletion may occur sporadically not inherited or it may be inherited from a parent. Mosaic Turner syndrome when some cells have one X chromosome and some have two sex chromosomes is caused by a random error in early fetal development shortly after conception.
It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.
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The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples.
Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet. The two main clinical features of Turner syndrome are short stature and the lack of the development of the ovaries. Many girls are diagnosed in early childhood when a slow growth rate and other features are identified.
Diagnosis sometimes takes place later when puberty does not occur. Turner syndrome may be suspected in pregnancy during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells from the unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the baby may be under the care of a specialist pediatrician immediately after birth. Diagnosis is confirmed by a blood test, called a karyotype. This is used to analyze the chromosomal composition of the female.
More information about this will be discussed in the section "Is Turner syndrome inherited? During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism. Growth hormone injections are beneficial in some individuals with Turner syndrome.
Injections often begin in early childhood and may increase final adult height by a few inches. Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development.
Estrogen and progesterone are given a little later to begin a monthly 'period,' which is necessary to keep the womb healthy.
Estrogen is also given to prevent osteoporosis. Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem.
A heart expert cardiologist will assess and follow up any treatment necessary. Girls who have Turner syndrome are more likely to get middle ear infections.
Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist ENT may be involved in caring for this health issue.
High blood pressure is quite common in women who have Turner syndrome. In some cases, the elevated blood pressure is due to narrowing of the aorta or a kidney abnormality.
However, most of the time, no specific cause for the elevation is identified. These resources provide more information about this condition or associated symptoms.
The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy.
If you do not want your question posted, please let us know. Submit a new question. I underwent an IVF cycle and got pregnant but miscarried at 9 weeks. We had genetic testing and were told the child had Turner syndrome. We are doing a second IVF cycle and are wondering if it is worth doing genetic testing before we transfer the next embryo.
It seems that Turner syndrome is a "random" event, but based on our first pregnancy, are we at a higher risk of having a child with a genetic abnormality? See answer. How can I learn more about learning disabilities in women and girls with Turner syndrome?
My daughter was diagnosed with Turner syndrome at the age of She has flat feet and one leg is shorter than the other, which affects the way she walks. Could this be caused by hip dysplasia? Is there anything that can be done to improve the way she walks? The only sign she has is mild clitoromegaly. Can you give me general information about mosaic Turner syndrome and about the prognosis of this condition? Could someone with a mild case of Turner syndrome have occasional monthly menses?
My stepdaughter has Turner syndrome. I was wondering if her mother or father carries the gene that causes this disease? Would a blood test from her father indicate if it came from his side of the family? I have Turner syndrome, and have been getting my period regularly. Does this mean that my hormones are at a normal level right now? Also, I was wondering if women with Turner syndrome are able to have a normal sexual life or if it is harder for them to get sexually aroused because of hormone differences.
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This site is in-development and may not reflect the final version. Preview the new GARD site. Other Names:. Chromosome Disorders ; Newborn Screening. This disease is grouped under:. Numeric sex chromosome variations. Summary Summary. Symptoms Symptoms. There are various signs and symptoms of Turner syndrome , which can range from very mild to more severe.
Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology.
Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling lymphedema of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis curving of the spine or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes , especially if older or overweight osteoporosis due to a lack of estrogen , usually prevented by hormone replacement therapy.
Showing of 99 View All. Abnormal shape of of forearm bone. Outward turned elbows. Delayed pubertal development. Delayed pubertal growth. Pubertal delay. Delayed bone maturation.
Delayed skeletal development. Elevated gonadotropins. Elevated serum gonadotropins. Gonadotropin excess. Prenatal growth deficiency. Prenatal growth retardation.
Growth delay as children. Early menopause. Premature menopause. Premature ovarian failure. Decreased length of neck. Decreased body height. Small stature. Wide-spaced nipples. Widely spaced nipples. Widely-spaced nipples. Excessive, persistent worry and fear. Increased width of neck. Wide neck. High liver enzymes. Enlargement of the outermost thighbone end part. Faltering weight in infancy.
Weight faltering in infancy. Knock knees. Hearing defect. Fatty infiltration of liver. Fatty liver. Narrow, high-arched roof of mouth. Narrow, highly arched roof of mouth. Underdeveloped toenails. Impaired use of nonverbal behaviours. Irregular innermost shankbone end part.
Irregular innermost shinbone end part. Hunched back. Round back. Low hairline at back of neck. Low set ears. Lowset ears. Little lower jaw. Small jaw. Small lower jaw. Having too much body fat. Recurrent middle ear infection.
Receding chin. Receding lower jaw.
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