Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references National Library of Medicine. Turner syndrome. Genetics Home Reference. Accessed July 5, Learning about Turner syndrome. National Human Genome Research Institute.
National Organization for Rare Disorders. Merck Manual Professional Version. Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. Management of Turner syndrome. Culen C, et al. Care of girls and women with Turner syndrome: Beyond growth and hormones. Endocrine Connections. Gruccio Paolucci D, et al. A special set of tests called psychoeducational evaluation can identify specific problems. A girl's doctor can help decide whether this testing is right for her.
It's important to assess a girl's intellectual, learning, motor skills, and social maturity before kindergarten. If learning problems are found, early preventive and intervention strategies can help. Girls with Turner syndrome might have specific medical problems and different physical characteristics. But you can help your daughter develop daily living skills and cope with new or challenging situations.
Note: Height-related issues may be less important to girls who have improved growth with growth hormone treatment. Turner syndrome can affect your daughter in many ways, but it's only a small part of who she is. If needed, get help and support from her doctor, developmental pediatrician, or other medical specialists and mental health providers. Reviewed by: Judith L. Ross, MD.
Larger text size Large text size Regular text size. What Is Turner Syndrome? What Causes Turner Syndrome? Turner syndrome TS is the result of a chromosomal abnormality. These can include: "webbing" of the skin of the neck extra folds of skin extending from the tops of the shoulders to the sides of the neck a low hairline at the back of the head low-set ears unusual eye features, including drooping of the eyelids altered bone development, especially the bones of the hands and elbows a lack of breast development at the expected age usually by age 13 irregular periods or no periods amenorrhea a larger than usual number of moles on the skin What Problems Can Happen?
How Is Turner Syndrome Diagnosed? How Is Turner Syndrome Treated? But a number of treatments can help: Growth hormone , either alone or with other hormone treatment, may improve growth and will usually increase final adult height — often into the normal range if treatment is started early enough.
The U. Food and Drug Administration FDA has approved growth hormone for the treatment of Turner syndrome, and most insurance plans now cover this special treatment. Estrogen replacement therapy often begins when a girl is 12 or 13 years old to stimulate the development of secondary sexual characteristics breast development and menstrual periods.
This therapy will not reverse infertility, however. Cardiac surgery may be necessary to correct specific heart defects. Reproductive technologies can help women with Turner syndrome become pregnant. Fertilized donor eggs are used to create embryos, which can be inserted into the uterus of a woman with TS.
However, individuals with Turner syndrome do not have part of a second sex chromosome. Sometimes the whole chromosome will be absent. Around 1 in 2, girls is born with the condition, but it probably affects more pregnancies that do not survive to term. In the United States, around 70, women are thought to have TS. Life expectancy is slightly lower than it would be for most people. Chromosomes are strands of deoxyribonucleic acid DNA that exist in all the cells of the human body.
Signs and symptoms before birth include lymphedema. Lymphedema happens when fluid is not properly transported around the organs of the fetal body, and excess fluid leaks into the surrounding tissue, resulting in swelling. Most girls with TS have normal intelligence and good verbal and reading skills, but some may have problems with math, spatial concepts, memory skills, and fine finger movements.
Most girls with TS will not produce these sex hormones. Although a female with TS has non-functioning ovaries and is infertile, her vagina and uterus, or womb, is usually normal, and most females with TS will be able to have a normal sex life.
Around 20 percent of females with TS will start menstruating during puberty, but it is rare for a woman with TS to become pregnant without fertility treatment. Most people are born with two sex chromosomes. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers.
Females inherit one X chromosome from each parent. Monosomy : One X chromosome is completely missing. Mosaic Turner syndrome , also called mosaicism or Turner mosaicism: During the early stages of fetal development, an error may occur in cell division, resulting in some cells having two X chromosome copies, while others only have one. Sometimes, there may be some cells with both X chromosome copies, and others with one altered copy.
Y chromosome material : A small number of people with TS have some cells with just one X chromosome copy, and others with just one X chromosome copy and some Y chromosome material. The individual develops as a female but with a higher risk of developing a type of cancer known as gonadoblastoma.
The loss or abnormality of the X chromosome occurs spontaneously at conception when the egg is fertilized. The missing or altered X chromosome causes errors during fetal development and in development after birth.
Having one child with TS does not increase the risk of having other children with the condition. It is thought that the risk of having TS is the same for all females, regardless of ethnicity or location. It occurs randomly, it is not associated with parental age, and there are no known toxins or environmental factors that appear to affect the risk.
During pregnancy, an ultrasound test may reveal signs of TS. Amniocentesis or chorionic villus sampling CVS are antenatal tests that can detect chromosomal abnormalities.
If an infant has a wide or webbed neck, a broad chest, and widely spaced nipples, or if, as a girl grows, she has a short stature and undeveloped ovaries, TS may be present.
A karyotype blood test can detect extra or missing chromosomes, chromosomal rearrangements, or chromosomal breaks. This may be done by taking a sample of the amniotic fluid while the baby is still in the uterus, or by taking a blood sample after birth.
If one X chromosome is missing or incomplete, TS is confirmed. Turner syndrome is a genetic condition with no cure, but treatment may help resolve issues with short stature, sexual development, and learning difficulties.
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