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- Patient Comments: Turner Syndrome - Diagnosis
- Patient Comments: Turner Syndrome - Symptoms
- Patient Comments: Turner Syndrome - Treatment
How is Turner syndrome diagnosed?
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?"
What is the treatment for Turner syndrome?
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. Blood pressure should be checked routinely and, if necessary, treated with medication. Women who have Turner syndrome have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored during routine health maintenance visits and treated if necessary.
Regular health checks are very important. Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important.
Almost all women are infertile, but pregnancy with donor embryos may be possible.
Having appropriate medical treatment and support allows a woman with Turner syndrome to lead a normal, healthy and happy life.