Turner syndrome

Treatment

What are the first steps after an initial diagnosis of Turner syndrome?

After a diagnosis of Turner syndrome is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in treating the disorder. A pediatric endocrinologist will also be knowledgable in Turner syndrome. Supports groups such as the Turner Syndrome Society of the United States, Turner Syndrome Foundation, and the Turner Syndrome Society of Canada can provide referrals to physicians or medical centers with experience in treating these disorders. There are Turner Syndrome Clinics in the United States that specialize in diagnosing, treating and support individuals and families with Turner syndrome. People diagnosed with Turner syndrome will go through a series of tests to see how the disorder affects them. These tests will tell a physician what parts of the body are affected and to what extent. They may need to conduct hearing and eye tests. X-rays of the spine may be done and people may have their heart, liver, and kidneys evaluated. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

References
  • Culen C, Ertl DA, Schubert K, Bartha-Doering L, Haeusler G. Care of girls and women with Turner syndrome: beyond growth and hormones. Endocr Connect. 2017;6(4):R39-R51. http://www.endocrineconnections.com/content/6/4/R39.full.pdf+html
  • Backeljauw P. Management of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/management-of-turner-syndrome
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How is Turner syndrome treated?

How is ovarian failure treated in Turner syndrome?

What can I do if my child with Turner syndrome has low self-esteem?

Does growth hormone therapy help girls with Turner syndrome?

How is Turner syndrome treated?

There is no cure for Turner syndrome. However, girls can be treated so that the effects of the disorder are minimized. Growth hormone replacement is often prescribed to treat short stature. This should be started in early childhood so that girls can maximize their adult heights. Girls with Turner syndrome do not have low levels of growth hormone, but doctors have determined that giving girls supplemental growth hormone helps to increase their growth. The Food and Drug Administration (FDA) has approved the use of recombinant (artificially created in a lab) growth hormone for girls with Turner syndrome.

Some girls with severe growth limitations may receive treatment with oxandrolone, an anabolic steroid, along with growth hormone. Sometimes, instead of oxandrolone, they will not receive estrogen therapy until they are older; this is called delayed pubertal induction. Delayed puberty allows more growth to occur before the epiphyses, which are the ends of the longer bones of the arms and legs, fuse.

Girls with Turner syndrome have premature ovarian failure. Doctors will give girls estrogen because their ovaries fail to produce this hormone. Almost all girls need some estrogen therapy including girls who initially experience puberty on their own. They will also need replacement therapy for another female hormone called progesterone. Girls and women should receive replacement of estrogen and progesterone until they undergo menopause.

Girls and women should be monitored throughout their lives for additional problems that might occur with Turner syndrome. This includes hearing loss, eye problems, heart defects, high blood pressure, kidney problems, inflammation of the thyroid gland, and problems with the eyes. Most of these conditions are usually treated as they are in people without Turner syndrome. Girls should receive testing to determine whether they have any learning disabilities, which can be treated with as they would for children without Turner syndrome.

It is extremely important that girls and women receive psychological support. This means that they should receive help for any psychological or social problems they may have. Turner syndrome can cause girls to feel different from their friends and can lead to feelings of isolation, anxiousness, depression and frustration. They may struggle with low self-esteem and making and keeping friendships. These are normal feelings for individuals and families dealing with a chronic illness. Talk to your doctor and medical team about how to deal with such issues. It is also beneficial to talk to other people and families that are dealing with the challenges of Turner syndrome.

References
  • Backeljauw P. Management of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/management-of-turner-syndrome
  • Learning About Turner Syndrome. The National Human Genome Research Institute website. https://www.genome.gov/19519119/
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Culen C, Ertl DA, Schubert K, Bartha-Doering L, Haeusler G. Care of girls and women with Turner syndrome: beyond growth and hormones. Endocr Connect. 2017;6(4):R39-R51. http://www.endocrineconnections.com/content/6/4/R39.full.pdf+html
  • Rieser P, Davenport M. Turner Syndrome: A Guide for Family. The Turner Syndrome Society of the United States website. http://media.wix.com/ugd/8fb9de_9c422e2146c24c208ffbe1b1c3181eae.pdf
How is ovarian failure treated in Turner syndrome?

Girls with Turner syndrome experience premature ovarian failure. The ovaries are part of the female reproductive system. The ovaries produce the hormones estrogen and progesterone, which are required to begin having periods and for the development of secondary sexual characteristics like the growth of breasts or pubic hair. They also produce at least one egg per month. Most girls and women have poorly formed or absent ovaries. They cannot produce hormones or eggs. Most girls require treatment with estrogen to begin having periods and to fully develop breasts. They will require progesterone replacement therapy to maintain secondary sexual characteristics. Most women will require hormone replacement therapy until they reach menopause. Some girls may undergo puberty and begin to develop sexually, but this will stop later in their teens. They will also need supplemental hormone therapy.

Most women are infertile. However, the uterus or womb is not usually affected and women can have a successful pregnancy through in vitro fertilization, in which a donor egg is fertilized and implanted into the womb. Women with Turner syndrome may be at a greater risk of maternal complications and adoption is a more common method for women who want to have children.

Because of the potential complications during pregnancy, women with Turner syndrome who want to become pregnant should talk with their doctors and medical team and a genetic counselor to develop a plan for the pregnancy.

References
  • Backeljauw P. Management of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/management-of-turner-syndrome
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Rieser P, Davenport M. Turner Syndrome: A Guide for Family. The Turner Syndrome Society of the United States website. http://media.wix.com/ugd/8fb9de_9c422e2146c24c208ffbe1b1c3181eae.pdf
  • Turner Syndrome. Merck Manual Professional Edition website. http://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/turner-syndrome
What can I do if my child with Turner syndrome has low self-esteem?

It is extremely important that girls and women with Turner syndrome receive psychological support. This means that they should receive help for any psychological or social problems they may have. Some girls have problems with social cognition, which means they have trouble reading facial expressions or body language. Turner syndrome can cause girls to feel different from their friends and can lead to feelings of isolation, anxiousness, depression and frustration. They may struggle with low self-esteem and making and keeping friendships.

These are normal feelings for individuals and families dealing with a chronic illness. Talk to your doctor and medical team about how to deal with such issues. Parents and therapists can help girls with their social skills. It is also beneficial to talk to other people and families that are dealing with the challenges of Turner syndrome. There are several support groups for Turner syndrome that provide advice and support and help bring people with Turner syndrome together. These groups include: the Turner Syndrome Society of the United States, Turner Syndrome Foundation, The Turner Syndrome Society of Canada, and the Turner Syndrome Support Society of the UK.

References
  • Rieser P, Davenport M. Turner Syndrome: A Guide for Family. The Turner Syndrome Society of the United States website. http://media.wix.com/ugd/8fb9de_9c422e2146c24c208ffbe1b1c3181eae.pdf
  • Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351(12):1227-38. http://www.nejm.org/doi/full/10.1056/NEJMra030360#t=article
Does growth hormone therapy help girls with Turner syndrome?

Growth hormone therapy is a standard treatment for girls with Turner syndrome. Recombinant means that the growth hormone is artificially created in a lab. Although girls with Turner syndrome do not lack growth hormone, they are often very short for their ages, if they aren't treated. Giving girls growth hormone therapy can help them maximize their adult heights. The best age to start this therapy and how long to keep this therapy going are not known. Generally, growth hormone therapy should be started in early childhood so that girls can get the most benefit. Doctors are still trying to determine the best time and method to treat girls with growth hormone therapy and any current recommendations may change as they learn more information.

Some girls with severe growth limitations may receive treatment with oxandrolone, an anabolic steroid, along with growth hormone therapy. Sometimes, instead of oxandrolone, they will not receive estrogen therapy until they are older; this is called delayed pubertal induction. Delayed puberty allows more growth to occur before the epiphyses, which are the ends of the longer bones of the arms and legs, fuse.

References
  • Backeljauw P. Management of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/management-of-turner-syndrome
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Rieser P, Davenport M. Turner Syndrome: A Guide for Family. The Turner Syndrome Society of the United States website. http://media.wix.com/ugd/8fb9de_9c422e2146c24c208ffbe1b1c3181eae.pdf

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