Turner syndrome

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What is the life expectancy of a girl with Turner syndrome?

Turner syndrome can affect one person very differently from how it affects another person. It is difficult to make predictions about how the disease will progress for an individual. For girls and women who are treated promptly and follow their treatment plans, they can have a normal or near-normal life expectancy. However, girls and women with Turner syndrome are at risk for life-threatening issues throughout life. This can be because of problems associated with the disorder like problems with the heart, high blood pressure, osteoporosis (where the bones lose bone mass and become fragile and brittle), or obesity. Girls and women with Turner should receive yearly checkups for signs and symptoms potentially associated with the disorder.

Talk to your doctor and entire medical team about you or your daughter's diagnosis and individual outlook for Turner syndrome.

References
  • Turner Syndrome. The Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/turner-syndrome
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
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Are there early intervention programs for Turner syndrome?

What can I do for siblings of kids with Turner syndrome?

Where can caregivers of people with Turner syndrome get support?

If my child didn't get Turner syndrome from one of their parents, why is it called a genetic disorder?

Will my child outgrow Turner syndrome?

When do girls with Turner syndrome first develop symptoms?

Does Turner syndrome affect puberty?

How do children with Turner syndrome do in school?

Can girls with Turner syndrome have children?

Does Turner syndrome affect quality of life?

Can women with Turner syndrome have sexual relationships?

Will girls with Turner syndrome develop a gonadoblastoma?

Is there a patient registry for Turner syndrome?

When should I tell my daughter about her Turner syndrome diagnosis?

Can Turner syndrome be prevented?

Do girls with Turner syndrome need to take hormone replacement therapy as adults?

How do girls with Turner syndrome go from pediatric care to adult care?

Are there early intervention programs for Turner syndrome?

Infants with Turner syndrome show symptoms within the early stages of life if not diagnosed and treated promptly. The first few years of a child's life are critically important to a child's development. Intelligence is usually not affected, but girls with Turner syndrome may have problems with certain mental skills like math or nonverbal memory or directional sense. Usually, girls have normal verbal and reading skills. Some girls have frequency middle ear infections called otitis media. These infections can sometimes cause hearing loss, which can also affect schooling.

States have federally-funded early intervention programs that support families that have concerns or issues with their children's development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) provides information about early intervention programs and assistance.

References
What can I do for siblings of kids with Turner syndrome?

When infants and children have a chronic disorder like Turner syndrome, it demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

References
  • Barrera M. Siblings of Children with Rare Diseases are Psychosocially Vulnerable. [PowerPoint]. Vancouver, BC: Sibling Appreciation Day Children's Organ Transplant Society & Rare Disease Foundation; 2012. https://s3.amazonaws.com/childrensots/Siblings-Vancouver-2012_final.pdf
  • Houtzager BA, Oort FJ, Hoekstra-Weebers JE, et al. Coping and family functioning predict longitudinal psychological adaptation of siblings of childhood cancer patients. J Pediatr Psychol. 2004;29(8):591-605. http://jpepsy.oxfordjournals.org/content/29/8/591.long
Where can caregivers of people with Turner syndrome get support?

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with Turner syndrome. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for Turner syndrome 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
  • Caregiver Action Network website. http://caregiveraction.org/
If my child didn't get Turner syndrome from one of their parents, why is it called a genetic disorder?

This is very common question about a lot of chromosomal disorders. Turner syndrome is a genetic disorder because we know it is usually caused by the complete or partial loss of one of the two X chromosomes in girls. Chromosomes are found in the nucleus of every cell. Chromosomes carry the genetic material of a person in the form of genes. Genes on the X chromosome influence many different systems in the body. It is the loss of these genes that cause the signs and symptoms of Turner syndrome. The loss of part or all of the X chromosome, however, is almost never inherited. It occurs as a random event for no apparent reason, and it occurs after fertilization. There is nothing the parents did to cause it to happen.

Talk to a genetic counselor to learn more about the genetics of Turner syndrome. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

References
  • Turner Syndrome. The Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/turner-syndrome
Will my child outgrow Turner syndrome?

Turner syndrome is a genetic condition and there is no cure. A person will never outgrow the disorder. People with Turner syndrome will receive periodic evaluations (screenings) to see how the disorder affects people, which can include evaluating the heart, hearing or other systems of the body. Although there is not cure, people who receive appropriate treatment of Turner syndrome and have developed an individual treatment and care plan with their doctors, the prognosis is that they can have a normal or near-normal life expectancy. The risk of life-threatening complications such as problems with the heart do exist, however.

Talk to you or your child's doctors or a genetic counselor about Turner syndrome for the most up-to-date information on symptom as well as treatment options.

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
  • Turner Syndrome. The Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/turner-syndrome
When do girls with Turner syndrome first develop symptoms?

Turner syndrome can be diagnosed at almost any age from before birth through adulthood. Turner syndrome is caused by the complete or partial loss of one of the two X chromosomes in girls. Chromosomes are found in the nucleus of every cell. Chromosomes carry the genetic material of a person in the form of genes. Genes on the X chromosome influence many different systems in the body. It is the loss of these genes that cause the signs and symptoms of Turner syndrome.

The "onset" of Turner syndrome is before birth, but when a diagnosis is made can vary greatly. Sometimes, Turner syndrome is diagnosed before birth when a routine fetal ultrasound, also called a sonogram, reveals defects that can be associated with the disorder. Sometimes, the disorder is diagnosed shortly after birth because of characteristic findings like swelling of the hands and feet, heart defects and other physical changes. Sometimes, Turner syndrome is diagnosed during childhood because of physical changes, slow growth, and other features. Sometimes, Turner syndrome is diagnosed when a girl fails to go through puberty or begin her periods. Sometimes, the disorder goes undiagnosed into adulthood and the diagnosis is made incidentally. The reason Turner syndrome can be diagnosed at different ages is because the disorder can affect girls very differently. Sometimes, the disorder can be obvious and other times very mild.

References
  • Turner Syndrome. Stanford Children's Health website. http://www.stanfordchildrens.org/en/topic/default?id=turner-syndrome-90-P02421
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
Does Turner syndrome affect puberty?

Many girls with Turner syndrome will not begin puberty and will not develop secondary sexual characteristics like growing pubic or underarm hair or fully growing breasts unless they receive estrogen replacement therapy. This is because they have premature ovarian failure. The ovaries are glands that produce the female hormones estrogen and progesterone. They also release at least one egg every month. Girls will need estrogen therapy and this is usually begun around 11-14 years of age. Estrogen therapy should allow girls to have their period and develop secondary sexual characteristics. About 15% to 30% of girls will experience spontaneous puberty and begin to develop sexually, but should still receive treatment with estrogen replacement if diagnosed with Turner syndrome. This is because most of these girls will stop having periods and develop sexually later on in their teens. Girls will also receive replacement therapy with progesterone. Most girls and women with Turner syndrome will require therapy with estrogen and progesterone until they reach menopause.

Although hormone therapy will allow girls to undergo puberty, most girls and women with Turner syndrome are infertile. About 95% of women cannot become pregnant without assistive technology. However, the uterus or womb is not usually affected by Turner syndrome 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.

References
  • Backeljauw P. Management of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/management-of-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: Overview. The National Institute of Child Health and Human Development website. https://www.nichd.nih.gov/health/topics/turner/Pages/default.aspx
  • Turner Syndrome. Merck Manual Professional Edition website. http://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/turner-syndrome
How do children with Turner syndrome do in school?

Girls with Turner syndrome can attend school. They can, however, have certain learning disabilities. They may have problems with visual-spatial relationships; this is a person's ability to perceive the relationship of different objects in space. This can include problems differentiating left from right. They may struggle with math and nonverbal memory skills, which means they have problems remembering what they read, and may do better with verbal instruction. They are at a greater risk than girls without Turner syndrome of having attention deficit hyperactivity disorder. Some girls have problems with social cognition; this is the ability to read social cues like facial expressions or body language. This makes it difficult for some girls to make and keep friendships. Girls will often write well, and learn well by hearing and listening. They can develop good language skills as well and can excel in school.

About 10% of girls will have significant delays in reaching their developing milestones and require special education. Intellectual disability is possible in Turner syndrome, but a very rare occurrence and is usually associated with ring chromosome X, where the ends of the X chromosome break off and the remaining ends combine to form a ring.

Because they have a chronic illness and some children have physical limitations, they may need special accommodations. Because they may need special accommodations in school, they may eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on Turner syndrome and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

The Turner Syndrome Society of the United States offers a Parent Toolkit to help parents find resources for working with school administrators, how to make school transition easier, home education, driving resources, and more.

References
Can girls with Turner syndrome have children?

Most girls with Turner syndrome are infertile; about 95% of women cannot become pregnant without the help of assistive technology. In rare instances, some women have become pregnant on their own. Girls with Turner syndrome experience premature ovarian failure. Without functioning ovaries, they cannot become pregnant on their own. There are options for women who want to have children. The uterus (or womb) is not usually affected by Turner syndrome and women can have a successful pregnancy through in vitro fertilization, in which a donor egg is fertilized and implanted into the womb. However, women with Turner syndrome may be at a greater risk of maternal complications.

Some girls or women retain sufficient ovarian function. Doctors are studying cryopreservation. Doctors stimulate the ovaries to produce eggs, which are taken and frozen. The eggs are unfrozen, fertilized and implanted into the womb through in vitro fertilization. Women with Turner syndrome who have experienced a pregnancy on their own have higher rates of chromosomal abnormalities. Using their own eggs through cryopreservation would include this increased risk. Cryopreservation is an experimental technique for certain women with Turner syndrome.

There are risks involved with all these procedures and many women decide on adoption as a means of starting a family. 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
  • 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: Overview. The National Institute of Child Health and Human Development website. https://www.nichd.nih.gov/health/topics/turner/Pages/default.aspx
  • 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 Turner syndrome affect quality of life?

Turner syndrome can potentially significantly affect quality of life. There are many issues girls and women with the disorder must face. There are also lifelong medical problems they must also manage. After girls with Turner syndrome become adults and transition into adult care, it is important that they continued to follow their doctor's advice. Sometimes, when people get older, they fail to do so and this has a negative impact on a person's overall quality of life. If women do not take command of their health, they may fail to receive needed care. Despite the many issues associated with Turner syndrome, women, with good medical treatment, good psychological treatment and strong support from family and friends, can have a healthy, happy and satisfying life.

Support groups for Turner syndrome are important sources of support and information and help managing the disorder. 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
  • 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
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
Can women with Turner syndrome have sexual relationships?

Women with Turner syndrome can have normal sex lives. Because Turner syndrome affects puberty and the development of secondary sexual characteristics, girls often feel different and lack confidence about their appearance. Turner syndrome can affect self-esteem. Some women have difficulty with social cognition like reading facial expressions or body language and may having trouble making and keeping friendships. Often a woman's first sexual interaction is later than for their peers. Talking with a therapist can help with these issues. Despite the issues associated with Turner syndrome, the ability to have sex is unaffected and women can have fulfilling and satisfying sex lives.

References
  • Carel JC, Elie C, Ecosse E, et al. Self-esteem and social adjustment in young women with Turner syndrome--influence of pubertal management and sexuality: population-based cohort study. J Clin Endocrinol Metab. 2006;91(8):2972-9.
  • Turner Syndrome: Other FAQs. The National Institute of Child Health and Human Development website. https://www.nichd.nih.gov/health/topics/turner/conditioninfo/pages/faqs.aspx
  • 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
Will girls with Turner syndrome develop a gonadoblastoma?

In rare instances, some girls with Turner syndrome have one copy of the X chromosome in some of their cells and in other cells have one copy of the X chromosome and some genetic material from the Y chromosome. Girls normally have two X chromosomes and boys have one X chromosome and one Y chromosome. Girls with Turner syndrome who have material from the Y chromosome usually do not have enough Y chromosome material to cause the development of male features. However, these girls are at risk of developing a tumor called a gonadoblastoma, which only occurs in people with abnormal development of the ovaries or testes. A gonadoblastoma is usually noncancerous (benign), but can develop into a cancerous (malignant) germ cell tumor. Some but not all doctors recommend that the gonadoblastoma be removed surgically.

References
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Turner Syndrome. Merck Manual Professional Edition website. http://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/turner-syndrome
Is there a patient registry for Turner syndrome?

A patient registry is a database set up by researchers that contains information about patients with a particular disorder or group of disorders. Patient registries require that patients either directly or through their doctor submit personal information. The Turner Syndrome Society of the United States and the Turner Syndrome Foundation both have patient registries. Women with Turner syndrome and parents of affected children should talk to a genetic counselor and their doctors about the pros or cons of participating in a patient registry.

References
  • Patient Registries. The National Center for Advancing Translational Science website. https://ncats.nih.gov/clinical/registries
When should I tell my daughter about her Turner syndrome diagnosis?

Parents of children with chronic illness often struggle with when and how to tell their child about the diagnosis. Most studies show that waiting to tell a child about a chronic or lifelong illness causes feelings of betrayal and anger. There are studies that have shown that when a girl is told about a Turner syndrome diagnosis earlier in life the better her self-esteem and quality of life is. Additionally, keeping a diagnosis secret for too long has been shown to have an adverse effect on well-being throughout the person's life. Parents should talk to their pediatrician, a therapist or a genetic counselor about the best ways and time to talk to their child about her diagnosis.

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
  • 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
Can Turner syndrome be prevented?

Turner syndrome cannot be prevented. There is nothing either parent did to cause the disorder. Turner syndrome occurs because there is a random change in one of the two X chromosome that occurs after fertilization.

References
  • Turner Syndrome. Stanford Children's Health website. http://www.stanfordchildrens.org/en/topic/default?id=turner-syndrome-90-P02421
  • Turner Syndrome. The Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/turner-syndrome
Do girls with Turner syndrome need to take hormone replacement therapy as adults?

Most medical sources recommend that women with Turner syndrome continue to take hormone replacement therapy until they reach menopause to maintain the development of secondary sexual characteristics and to keep having periods. Women with Turner syndrome should undergo yearly checkups to determine whether other symptoms have developed. This can include evaluations for hearing loss, eye problems, heart disease, and thyroid disease. Turner syndrome is a lifelong disorder and women are encouraged to follow their doctors' advice and treatment plan to ensure they live the healthiest life possible.

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/
How do girls with Turner syndrome go from pediatric care to adult care?

Many girls with Turner syndrome find it challenging when it's time to move (transition) from pediatric to adult care services. One big change is leaving a doctor with whom you have a long-standing relationship, a doctor who is familiar with both your condition and yourself. It can feel like 'starting over' as you'll begin to work with new doctors and a new medical team. Another challenge in moving to adult care is that young adults must take greater responsibility for their health. They must manage their disorder and manage their medications. They must bear greater responsibility for decisions concerning their health. Some hospitals have programs to help children with chronic disease transition to adult care services. Many adult women with Turner syndrome do not receive adequate medical care as adults because many gynecologists or endocrinologists are not familiar with the disorder. There should be a transition plan created to help girls move from pediatric care to adult care. Women need to take command of their treatment to ensure they receive the best care.

The Endocrine Society has detailed information on the Transition of Care for Turner syndrome. Turner syndrome support groups may also provide information or support on how to move from pediatric care to adult care services and what to expect.

Support 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. Additionally, Global Genes, an organization that provides support and information for rare disorders, has information about young adults gaining independence.

References
  • Transition of Care: Turner Syndrome. The Endocrine Society website. http://www.endocrinetransitions.org/turner-syndrome/
  • Sakakibara H. Transition of Women with Turner Syndrome from Pediatrics to Adult Health Care: Current Situation and Associated Problems. Front Pediatr. 2017;5:28. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5313480/
  • Backeljauw P. Management of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/management-of-turner-syndrome

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