Turner Syndrome - Diagnosis

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How was your Turner syndrome diagnosed?

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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.

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See what others are saying

Comment from: Tonya, 7-12 Female (Caregiver) Published: April 22

My daughter was diagnosed with Turner syndrome at birth. She had lymphedema in her hands and feet, partial cleft palate, broad chest with wide set nipples, and extra skin on the back of her neck, along with a heart murmur. She was later diagnosed being monosomy X karyotype. She is 7 now and very outgoing. She has a rare condition with her heart that we found about when she was days old. Just a few months ago we found out that it may be affecting her. The doctor told us that it will around the age of 5 or 6. She actually has hyperthyroid, so she never stops. She gains no weight but eats constantly due to her thyroid. I tried her on growth hormones injection when she was about 4 but it was stopped about 3 months later. She hated them so much. She"s about a foot smaller than kids her age. But I guarantee you she is stronger than all of them.

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Comment from: Schwab, 19-24 Female (Patient) Published: April 01

At 15, I always talked to my parents how weird I felt because I didn't get my period like all my girlfriends and I was really short. My parents decided to take me to an endocrinologist just to check and try to see what was going on. After a lot of tests I was diagnosed with Turner syndrome.

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