Understanding a Turner Syndrome Diagnosis

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Front Matter

In recognition of Eunice Kennedy Shriver, whose boundless vision advanced the progress of people with disabilities for generations, in appreciation for her special interest in this project and the generous contribution of the Joseph P. Kennedy, Jr. Foundation toward the funding and support of this booklet.

©2016 Joseph P. Kennedy, Jr. Foundation and Human Development Institute, University of Kentucky. All rights reserved. Written by Stephanie Meredith. Designed by Canister (canisterstudio.com). Photos, shot on location by Matthew Day (matthewday.net), Justin, and Andy Meredith, include members of the Turner syndrome community, their friends, families, teachers, and co-workers in their schools, neighborhoods, homes, and places of employment. Order additional copies at Lettercase.org.

The material in this publication is intended to provide a general overview of Turner syndrome and select, reliable resources. It is not comprehensive and should not be used to substitute for quality medical advice from your provider. All decisions about a patient’s care should be fully discussed with a medical care provider. We assume no liability arising from the use of, or content within, this booklet.

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Overview of Turner Syndrome

This booklet offers information for expectant parents first learning about Turner syndrome, which is a chromosome condition. Chromosomes are tiny, but very important, structures in every cell. Chromosomes give instructions for our bodies to grow and function. Most people are born with 46 chromosomes in their cells, 23 from their mother and 23 from their father. Females are usually born with two X chromosomes, and males are usually born with an X and a Y chromosome. Turner syndrome occurs when a female is missing all or part of one sex chromosome in some or all cells of the body. About 1 out of every 2,500 girls is born with Turner syndrome, and there are 50,000 to 75,000 girls and women with this condition in the U.S.1

Like everyone, women with Turner syndrome have strengths and challenges that no one can predict before birth. Women with Turner syndrome may have certain features, health issues, and sometimes learning disabilities. Some common physical features include a broad/short neck or droopy eyelids, and almost all women with Turner syndrome are short. Most women with Turner syndrome also have delayed puberty and infertility, but treatment is available. Turner syndrome also causes higher chances for some health conditions. Possible health issues may include heart and kidney defects, frequent ear infections, and hearing loss. Most women with Turner syndrome have normal intelligence. However, they may have short attention spans or learning disabilities in areas such as math, memory, and/or social skills. Therefore, girls with Turner syndrome may need help from schools and other professionals in some of those areas.2

Recent advances have also helped women with Turner syndrome to adapt and thrive. New treatments have helped most to grow taller, undergo puberty at a normal time, and get help with planning for a family. They can also stay healthy with good medical care, like anyone else. In addition, they can get support in school for any learning differences. If a girl with Turner syndrome struggles with social skills, psychological support may also be helpful. Most adults with Turner syndrome live independently and can be found working in many different careers.

More information about Turner syndrome can be obtained from the Turner Syndrome Society of the United States (TSSUS) and its local chapters, as well as Turner syndrome clinics nationwide.

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Turner Syndrome Diagnosis

Turner syndrome may be diagnosed during pregnancy or after a baby is born. This condition occurs randomly and is not caused by anything the parents did or did not do during pregnancy. Health professionals involved in testing for Turner syndrome and explaining the diagnosis might include obstetricians, pediatricians, primary care physicians, and specialists, such as maternal-fetal medicine doctors, medical geneticists, genetic counselors, and endocrinologists.

In the past, many girls with Turner syndrome did not learn about their condition until their doctors noticed that their growth or puberty was delayed. Now parents often learn about a possible diagnosis of Turner syndrome during pregnancy.

Prenatal Testing Options.

Ultrasounds and blood tests, called cell-free DNA (cfDNA) screening or non-invasive prenatal screening tests (NIPS), often show if there is an increased chance for Turner syndrome or other conditions. In addition, a clinician may suspect Turner syndrome if an ultrasound shows excess fluid on the neck (cystic hygroma), delayed fetal growth, or heart or kidney defects.3 However, these screening tests cannot give a definite diagnosis. Only chorionic villus sampling (CVS) or amniocentesis, which look directly at the chromosomes, are nearly 100% accurate in confirming a prenatal diagnosis for Turner syndrome. These tests do involve a very small risk of miscarriage, shown to be less than 1%.4

Prenatal Testing Considerations

Before or after prenatal testing, expectant parents can talk to their medical providers about how they plan to use the information. Some might use prenatal test results to prepare or make specific delivery plans. They might also use the time during pregnancy to find helpful resources about the condition. Since pregnancies diagnosed with Turner syndrome have a higher risk for miscarriage, expectant parents also might want to be aware of warning signs and symptoms for pregnancy loss. They might also want screening to rule out more severe conditions or to help find other issues, such as heart defects. Others may use a confirmed prenatal diagnosis to make decisions about whether or not to continue the pregnancy or to think about adoption. For all of these personal decisions, obstetric and genetic health professionals can give more information and referrals to specialists as needed.

Diagnosis Discussions

Genetic test results involve complex conversations and information about chromosomes. Health professionals can be important guides along the way. They can look at the specific karyotype or microarray (chromosome map) to explain more details about the diagnosis. Genetic professionals and maternal fetal medicine doctors can give expectant parents important resources and information about Turner syndrome, as well as pregnancy management options.

Local genetic counselors and medical geneticists can be found by asking a physician for a local referral or by searching online at the National Society of Genetic Counselors (nsgc.org) or the American College of Medical Genetics and Genomics (acmg.net).

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Medical Issues

Before Birth

While many pregnancies diagnosed with Turner syndrome miscarry during the first trimester, this risk drops as the pregnancy progresses. The risk is higher if excess fluid is found on the back of the head or neck. The risk for miscarriage also increases if extra fluid is found around the lungs (pleural effusion), heart (pericardial effusion), or abdomen (ascites). These conditions sometimes resolve on their own, but no one can know for certain. After Birth. Although babies with Turner syndrome have higher chances for various health issues, such as heart defects, advances in healthcare have greatly improved outcomes. Therefore, echocardiograms (an ultrasound of the heart) and an evaluation by a pediatric heart specialist are important. Some babies may need heart surgery, and the success rate is very high. In addition, some girls with Turner syndrome have kidney issues that can cause high blood pressure or urinary tract infections as they get older. For this reason, they need an ultrasound exam of their kidneys while they are young.6

During Childhood and Beyond

Frequent ear infections or vision problems can be more common for girls with Turner syndrome. Hearing and eye tests are important during the early years, just as they are for any child. A growth specialist (endocrinologist) can also monitor girls for growth; bone conditions (like scoliosis); and hypothyroidism (a condition where the body does not make enough of a hormone that helps maintain metabolism).7 A typical person with Turner syndrome usually has some of these medical conditions, but rarely all of them.

Most of these conditions are treatable with surgery and/or medication. Women with Turner syndrome are usually able to maintain good health and an active lifestyle with routine medical care, like most other people. While health problems, such as severe heart defects, may be fatal in a minority of cases, most women with Turner syndrome live long lives.6 Parents can find more information about Turner syndrome health issues by contacting the nearest specialty clinic.

For more information, please see the following:

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Healthcare and Social Services

Because children with Turner syndrome often need expert medical care, insurance coverage under regular group health plans or state programs, such as Medicaid or the Children's Health Insurance Program (SCHIP), is very important. However, some children might need more services than a health plan provides. While some states or regions provide very little support, other areas completely cover healthcare for people with Turner syndrome. Others offer supplemental insurance programs.

The services available to women with Turner syndrome can vary depending on where they live. Expectant parents may find it helpful to speak with other families, local Turner syndrome groups, doctors, or state and county offices about the services available in their area.

Early Intervention, a program found in all states, also offers evaluation and therapies from birth to age three for children with developmental delays or genetic conditions. These services are usually provided at no cost or for a "sliding-scale" fee. Therapists can work with families in their homes to help children meet developmental milestones, like climbing stairs and riding a bike. Nearly all children with Turner syndrome reach these milestones, but some may be slightly delayed and need extra help.

For more information, please also refer to the following resources:

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Growth and Development

Without treatment, most girls and women with Turner syndrome tend to be shorter than average (about 4 feet, 8 inches as adults).2 Parents and medical profes- sionals need to track the child's growth carefully during early childhood. If growth is delayed, a pediatric endocrinologist should meet with the child to see if growth hormone therapy might be helpful. Advances in treatments have allowed girls with Turner syndrome to attain a normal adult height (over 5 feet).2 Studies show that being short has no impact on adult quality of life, so families can talk to their doctor to make this decision based on what they prefer.8

Most girls with Turner syndrome need medication to start or complete puberty. If a girl does not start puberty on her own, she can usually be given female hormones starting around ages 12-14 (estrogen replacement therapy) when puberty usually starts for most girls. These hormones can help girls with Turner syndrome undergo the body changes common in adolescence, develop breasts, and eventually start their period. Hormones are usually taken throughout their adult life during the years when most women have their period.2

Most women with Turner syndrome have a uterus but their ovaries usually do not make eggs. Hormones help girls with Turner syndrome go through puberty and have periods, but hormones do not restore the ability to ovulate or make eggs. For this reason, women with Turner syndrome usually need to speak with a physician about options if they want to start a family. Those who want children may choose to adopt. They can also explore the option of assisted reproductive technology, such as in vitro fertilization with donor eggs. To become pregnant, women with Turner syndrome must be checked for medical and heart conditions that can be life-threatening during pregnancy. With these options, they have a number of ways to become parents, as do other women with fertility issues.2

To get more information about the typical growth curve of women with Turner syndrome, see the following:

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Educational and Social Support

Women and girls with Turner syndrome typically have normal intelligence (IQ). They usually have opportunities to attend college, live independently, and enjoy meaningful careers. Research shows that women with Turner syndrome often do well in school, including earning college degrees.10 Speaking and reading are commonly strengths for them.9

However, girls with Turner syndrome also have higher chances for learning disabilities in some areas. They sometimes have difficulties in math, hand-eye coordination, problem solving, and working memory.9 They may also need more time to learn some concepts. Girls with Turner syndrome might need an educational assessment in early childhood to find out if they need extra help in some areas. These disabilities can be treated with different kinds of therapy, as well as special education supports and services in school.

A small minority of girls with Turner syndrome may have more significant learning disabilities. They may need more support in school and in gaining independence.2 This cannot be predicted prenatally or postnatally in the majority of girls with Turner syndrome.

Girls with Turner syndrome also have higher chances for attention deficit hyperactivity disorder (ADHD), which means they may be very active or have a hard time paying attention. However, ADHD has no impact on their intellectual ability.11 If treatment for ADHD is needed, it is the same as for other children with ADHD.

For more information about non-verbal learning disabilities, see the following:

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Two White women sitting at a table and looking at a binder. The middle-aged woman with blonde hair is pointing at a page on the binder and the young woman with brown hair is looking at where she is pointing.

Families

Families are an important source of nurturing, support, and strength for a girl with Turner syndrome just as they are for any girl. Parents can help their daughter understand her diagnosis by talking about growth, puberty, and fertility issues as she is ready.

Parents often worry about how and when to approach these discussions, but they almost always occur as part of daily life. Girls usually ask questions based on their age, the world around them, and what is going on with their friends. Parents can respond as they would for any of those "sensitive" questions that their children ask them, using age-appropriate language and details. If girls are encouraged to be open, they are more likely to discuss any concerns with their family or profes- sionals and feel more confident.12

Because some girls with Turner syndrome may have a hard time understanding social cues (like how to join a conversation), parents may need to get extra help for them to develop and grow their social skills.12 With support as needed, women and girls with Turner syndrome can make friends and enjoy meaningful relationships just like anyone else.10

Parents also need to help their daughters plan for an independent future and take the steps toward a fulfilling career, just as they would do for any of their children. Women with Turner syndrome have built successful careers in many different fields.

For more stories from parents and individuals with Turner syndrome, please see the following:

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Two young White girls with brown hair sitting on the grass outside and laughing.

Turner Syndrome Resources

For more information about Turner syndrome and to find local, national, and online support groups, please see the following:

For more information about a Turner syndrome diagnosis, please see the following:

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Conclusion

Parents learning about Turner syndrome should receive accurate and up-to-date resources. This information should include common life outcomes and development, possible medical issues and treatments, and helpful services. Expectant parents should also receive clear information about testing and pregnancy management. Together, health professionals and support groups can provide a range of information to give parents a well-rounded understanding of Turner syndrome.

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Acknowledgements

This booklet was prepared with assistance from the Down Syndrome Consensus Group which includes representatives of:

  • The National Society of Genetic Counselors
  • The American College of Medical Genetics and Genomics
  • The American Academy of Pediatrics
  • The American College of Obstetricians and Gynecologists
  • The Association of University Centers on Disabilities
  • Turner Syndrome Society of the United States

We would like to thank the following who offered their expertise and feedback for this resource:

  • Judith Benkendorf, MS, CGC, ACMG
  • Joseph R. Biggio Jr., MD, University of Alabama at Birmingham
  • Melissa L. Crenshaw, MD, FAAP, FACMG, Johns Hopkins University School of Medicine
  • David Flannery, MD, FACMG, FAAP, ACMG
  • Chris Houk, MD, Augusta University
  • Susan Howell, MS, MBA, CGC, Children’s Hospital Colorado
  • Harold Kleinert, PhD, University of Kentucky
  • Melissa A. Parisi, MD, PhD
  • Beth A. Pletcher, MD, Rutgers New Jersey Medical School
  • Cindy Scurlock, Turner Syndrome Society of the US
  • Roopa Kanakatti Shankar, Children's Hospital of Richmond at VCU
  • Virginia P. Sybert MD, University of Washington and Group Health Physicians
  • Angela Trepanier, MS, CGC, Wayne State University
  • Daynna J. Wolff, Phd, FACMG, Cytogenetics and Molecular Genetics Medical University of South Carolina

We would also like to thank all the families and individuals who participated in the photos and their generous donation of time.

We are also very grateful to the Joseph P. Kennedy, Jr. Foundation for funding the development of this important resource.

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End Notes

  1. Morgan, T. (2007). Turner Syndrome: Diagnosis and Management. Am Fam Physician, 76(3):405-417.
  2. Bondy, C.A. (2007). Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab, 92(1):10–25.
  3. Bronshtein M., Zimmer E.Z., & Blazer S. (2003). A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy. Am J Obstet Gynecol, 188:1016–1020.
  4. ACOG Practice Bulletin No. 640. (2015). Cell-free DNA screening for aneuploidy. Obstet Gyneco, 126:e31-37.
  5. Hook E.B., & Warburton D. (1983.) The distribution of chromosomal genotypes associated with Turner’s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet, 64:24–27
  6. Stochholm K., Juul S., Juel K., Naeraa R.W., Gravholt C.H. (2006). Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab, 91(10):3897-902.
  7. Clinical Features of Turner Syndrome by the National Institute of Health. http://turners.nichd.nih.gov/clinical.html. Accessed on November 5, 2015.
  8. Carel JC, Ecosse E, Bastie-Sigeac I, Cabrol S, Tauber M, Léger J, Nicolino M, Brauner R, Chaussain JL, & Coste J. (2005). Quality of life determinants in young women with Turner’s syndrome after growth hormone treatment: results of the StaTur population-based cohort study. J Clin Endocrinol Metab, 90(4):1992-7.
  9. Mazzocco, M. M. (2006). The cognitive phenotype of Turner syndrome: Specific learning disabilities. International Congress Series / Excerpta Medica, 1298, 83–92.
  10. Gould, H., BA, Bakalov, V., Tankersley, C., & Bondy, C. (2013). High levels of education and employment among women with Turner syndrome. J Womens Health (Larchmt), 22(3): 230–235.
  11. Russell, H., Wallis, D., Mazzocco, M., Moshang, T., Zackai, E., Zinn, A., Ross, J. & Muenke, M. J. (2006). Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. Pediatr. Psychol, 31 (9): 945-955.
  12. McCauley E., Feuillan P., Kushner H., & Ross J.L. (2001.) Psychosocial development in adolescents with Turner syndrome. J Dev Behav Pediatr, 22(6):360-5.