Turner Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Life Expectancy

Article Summary

Turner syndrome is a genetic condition that affects girls and women. It happens when one X chromosome is missing or changed in some or all of the body’s cells. Common features include short height, delayed or absent puberty, and reduced fertility. Some people also have heart, kidney, hearing, thyroid, bone, or blood pressure problems. The signs vary widely, so some girls are diagnosed before birth or in childhood, while others are diagnosed later. Treatment may include growth hormone, estrogen, and regular health checks. With early diagnosis, careful follow-up, and appropriate treatment, most people with Turner syndrome can lead active lives. (1, 2)

Cite as: Motor Neuron Diseases: Turner Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Life Expectancy. Brisbane (AU): Exon Publications; 2024 Dec 2 [updated 2026 Aug 13].

Introduction

Turner syndrome affects many parts of the body, but its effects are different from one person to another. Some girls have clear signs from birth, while others have only a few features and may not be diagnosed until puberty or adulthood. There is no single treatment that corrects the chromosome change itself. Instead, care focuses on growth, puberty, heart health, fertility, and any other health problems that develop. Because some complications can appear later in life, regular medical follow-up remains important even when a person feels well. (1, 2)

What Is Turner Syndrome?

Turner syndrome is a genetic condition caused by a change involving the X chromosomes. Chromosomes are packages of DNA found in most cells of the body. They contain genes that help guide growth and development.

Most females have two X chromosomes. In Turner syndrome, one X chromosome is completely or partly missing, or it has an important structural change. The chromosome difference may be present in every cell or only in some cells. (1, 2)

Turner syndrome affects about 1 in every 2,000 to 2,500 live-born girls. However, the number of pregnancies affected is much higher because many pregnancies with a missing X chromosome end in miscarriage. (1, 2)

What Causes Turner Syndrome?

Turner syndrome begins when an X chromosome is missing or altered during the formation of an egg or sperm, or during the early stages after conception. In most cases, this happens by chance. It is not caused by food, medicines, exercise, stress, or anything the parents did before or during pregnancy. (1, 2)

Most cases are not inherited from a parent. This means that having one child with Turner syndrome usually does not mean that future children will also have it. Rare chromosome changes may have different inheritance patterns, so genetic counseling can be useful when the chromosome test shows an unusual finding. (1)

What Is Mosaic Turner Syndrome?

In some people, the chromosome change is present in only part of the body's cells. This is called mosaic Turner syndrome. For example, some cells may have the usual two X chromosomes while other cells have only one X chromosome.

People with mosaic Turner syndrome may have milder features, but this is not always the case. Some may grow taller, enter puberty naturally, have periods, or become pregnant without fertility treatment. Others may still develop many of the same health problems seen in people whose cells have only one X chromosome. The chromosome result alone cannot predict exactly how Turner syndrome will affect a person. (1)

What Are the Signs and Symptoms of Turner Syndrome?

The signs of Turner syndrome vary greatly. No person has every feature, and some signs are very mild.

Before birth, an ultrasound may show extra fluid around the baby's neck, swelling, a heart problem, or a kidney difference. Turner syndrome may also be suspected after prenatal chromosome screening. A screening result alone does not confirm the diagnosis.

At birth, some babies have swollen hands and feet, a broad chest, a wide or folded neck, or a low hairline at the back of the neck. Heart problems may also be found.

During childhood, short height is often the most noticeable feature. Some girls also have frequent middle-ear infections or hearing problems.

During adolescence, the main sign may be that puberty does not begin at the expected time. Breast development may be delayed or absent, and periods may not start because the ovaries are not producing enough estrogen.

In adulthood, some women are diagnosed while being investigated for infertility, early loss of periods, heart problems, or other health concerns. (1, 2)

How Is Turner Syndrome Diagnosed?

Turner syndrome is confirmed with a chromosome test, usually using a blood sample. This test examines the number and structure of the chromosomes and is often called a chromosome analysis or karyotype.

Current guidelines recommend examining at least 30 cells when testing for Turner syndrome. This helps identify mosaic Turner syndrome when the chromosome change is present in only some cells. Other genetic tests may sometimes be used, but chromosome analysis remains an important part of confirming the diagnosis. (1)

Turner syndrome can also be diagnosed before birth. Prenatal screening may suggest the condition, but screening tests are not diagnostic. Confirmation requires testing fetal or placental cells using an appropriate prenatal diagnostic test. Parents should discuss the benefits and risks of these tests with their maternity and genetics team. (1)

How Does Turner Syndrome Affect Growth and Height?

Short height is one of the most common features of Turner syndrome. Growth may slow during early childhood, and the usual growth spurt of puberty may not occur. Part of the reason involves the loss of genes on the X chromosome that normally help bones grow. (1, 2)

Growth hormone treatment can help many girls grow faster and reach a greater adult height. Treatment usually works best when it begins early enough to allow several years of growth before the growth plates in the bones close. The exact age, dose, and length of treatment depend on the child's height, age, growth rate, and individual needs. (1, 3)

Growth hormone does not change the underlying chromosome condition. Its purpose is to improve growth and adult height. Children receiving treatment need regular measurements and medical follow-up to check how well the treatment is working and whether any side effects develop. (3)

How Does Turner Syndrome Affect Puberty and Periods?

The ovaries often stop working normally very early in life in Turner syndrome. As a result, the body may not produce enough estrogen to start and maintain puberty.

Some girls, especially those with certain forms of mosaic Turner syndrome, begin puberty naturally. However, many need estrogen treatment. Current guidelines generally recommend starting low-dose estrogen at around 11 to 12 years of age when tests show that the ovaries are not functioning normally. The dose is then increased slowly over several years to copy the gradual changes of natural puberty. (1)

Estrogen helps breast and uterine development and also supports bone health. Progesterone is usually added later when appropriate to produce regular shedding of the lining of the uterus. Hormone treatment is often continued through adult life until around the usual age of menopause, unless there is a medical reason not to use it. (1)

How Does Turner Syndrome Affect the Heart and Blood Vessels?

Heart and blood vessel problems are among the most important health concerns in Turner syndrome. Some girls are born with changes in the heart or the large blood vessels connected to it. One common problem affects the aortic valve. Another is a narrowing of the aorta, the main artery that carries blood from the heart to the rest of the body. (1, 4)

The wall of the aorta can also become enlarged in some people. In rare cases, the wall can tear. This is called aortic dissection and is a medical emergency. High blood pressure can further increase cardiovascular risk. (1, 4)

For these reasons, everyone diagnosed with Turner syndrome needs a careful heart assessment. Follow-up may include blood pressure checks, heart ultrasound, and magnetic resonance imaging or other scans of the aorta. The type and frequency of testing depend on the person's heart structure and individual risk. Lifelong heart follow-up is important even if no heart problem was found during childhood. (1, 4)

What Other Health Problems Can Occur in Turner Syndrome?

Turner syndrome can affect several body systems. The problems vary, and many are treatable when detected early.

Hearing: Middle-ear infections are common during childhood. Hearing can also gradually decline with age. About one-third of people with Turner syndrome develop a form of inner-ear hearing loss, so regular hearing checks are important. (1)

Kidneys: Some people are born with differences in the shape, position, or structure of the kidneys. Most continue to have good kidney function, but an ultrasound is usually performed after diagnosis to look for structural problems. (1)

Thyroid: An underactive thyroid is more common in Turner syndrome, often because the immune system attacks the thyroid gland. Blood tests can detect thyroid problems before symptoms become severe. (1)

Blood sugar: The risk of diabetes is higher than in the general population. Regular blood tests help find rising blood sugar early. (1)

Liver: Liver blood tests may become abnormal. Regular testing can help identify problems that need further investigation. (1)

Bones: Low estrogen levels can weaken bones over time. Estrogen treatment, adequate calcium and vitamin D, physical activity, and bone checks when appropriate help protect bone health. (1)

Digestive system: Celiac disease, in which the immune system reacts to gluten, occurs more often in Turner syndrome. Screening is recommended at appropriate times. (1)

Eyes and teeth: Some people have vision problems, crossed eyes, dental crowding, or differences in jaw growth. Regular dental and eye care can identify these problems early. (1)

Does Turner Syndrome Affect Intelligence and Learning?

Most girls and women with Turner syndrome have intelligence within the normal range. Many do well at school, complete higher education, work, and live independently. (1, 6)

However, some have a particular pattern of learning difficulties. These may include problems with spatial tasks, mathematics, attention, planning, organization, or reading social signals. Verbal skills are often a strength. The type and degree of difficulty vary greatly from person to person. (1, 6)

A child who is struggling at school may benefit from an educational or psychological assessment. Support can then target the specific skill that is difficult instead of assuming that the child has a general learning problem. Social skills support or counseling may also help when needed. (6)

How Is Turner Syndrome Treated?

There is no treatment that can replace the missing or altered chromosome. Treatment instead focuses on the health effects caused by Turner syndrome.

Growth hormone may be used during childhood to improve growth. Estrogen is used when the ovaries do not produce enough hormone for puberty and adult health. Progesterone is added when appropriate. Heart problems, high blood pressure, thyroid disease, diabetes, hearing loss, kidney problems, and other conditions are treated according to the person's needs. (1, 3, 4)

Because Turner syndrome can affect several organs, care may involve a pediatrician or family doctor together with specialists in hormones, heart disease, women's health, hearing, genetics, fertility, and other fields. The number of specialists needed depends on the person's health problems. (1)

Why Are Lifelong Health Checks Important?

Turner syndrome does not end when childhood growth is complete. Some health risks become more important during adult life, which makes planned follow-up essential.

Regular care usually includes blood pressure measurement, heart monitoring, hearing tests, thyroid tests, blood sugar checks, liver tests, and assessment of bone health. Kidney, eye, dental, weight, and mental health concerns are also reviewed when appropriate. (1)

The transition from pediatric to adult care is particularly important. Young women need to understand their condition, their medicines, why heart monitoring matters, and which health checks should continue. Good long-term care can find problems before they cause serious complications. (1, 2)

Can Women With Turner Syndrome Become Pregnant?

Fertility is reduced because the ovaries often lose their eggs much earlier than usual. Most women with Turner syndrome cannot become pregnant naturally, but spontaneous pregnancy does occur in a minority, particularly in some women with mosaic Turner syndrome. (1, 5)

Fertility options depend on ovarian function, age, overall health, and personal choice. In selected girls and women who still have working ovaries, fertility preservation may sometimes be considered. Other women may become pregnant through in vitro fertilization using a donated egg. (1, 5)

Pregnancy requires special caution because it places extra strain on the heart and aorta. Women with Turner syndrome should have a detailed heart and aortic assessment before attempting pregnancy or fertility treatment. In some women with major aortic enlargement or other serious heart problems, pregnancy may carry an unacceptably high risk and may be advised against. (1, 4, 5)

Fertility discussions are therefore not only about whether pregnancy is possible. They must also consider whether pregnancy is safe.

Can Turner Syndrome Be Passed From Mother to Child?

Most Turner syndrome cases happen by chance and are not inherited. A mother with Turner syndrome therefore does not simply “pass on” Turner syndrome in the way some single-gene conditions are inherited. (1, 2)

However, pregnancies in women with Turner syndrome require specialist genetic and obstetric care. When pregnancy is being considered, genetic counseling can explain the woman's chromosome result, fertility options, possible pregnancy risks, and whether prenatal testing should be considered. (1, 5)

What Is Daily Life Like With Turner Syndrome?

Turner syndrome does not define a person's abilities, personality, education, career, or relationships. Many girls and women live independently, study, work, exercise, form relationships, and take part in the same activities as other people. (1, 6)

The main difference is the need for ongoing health care. Growth treatment and hormone therapy may be important during childhood and adolescence, while heart monitoring and other health checks continue during adulthood. Some people also need help with hearing, learning, fertility, body image, anxiety, or social challenges. (1, 6)

Understanding the condition can make it easier for girls and women to take part in decisions about their own care. Support from family, health professionals, schools, and Turner syndrome support groups can also help at different stages of life.

What Is the Life Expectancy for Someone With Turner Syndrome?

Many people with Turner syndrome live for many decades and have active adult lives. However, studies show that the overall risk of early death is higher than in the general female population. Heart and blood vessel disease is a major reason for this difference. (2, 4)

This does not mean that a particular person will have a shortened life. Risk varies according to heart structure, blood pressure, diabetes, weight, smoking, and other health factors. Lifelong heart monitoring, control of blood pressure, treatment of other medical conditions, healthy daily habits, and regular specialist follow-up are therefore important parts of long-term care. (1, 4)

Conclusion

Turner syndrome is a lifelong genetic condition caused by a missing or altered X chromosome. Its effects vary widely, but short height and reduced ovarian function are common. Heart disease, hearing loss, thyroid problems, kidney differences, diabetes, bone problems, and learning challenges can also occur. Treatment may include growth hormone, estrogen, management of individual health problems, and regular monitoring throughout life. Fertility is reduced, but reproductive options are available for some women. The most important part of care is not treating every person in the same way, but identifying the health issues that affect each individual and following them over time. (1)

References

1. Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting. Eur J Endocrinol. 2024;190(6):G53-G151. https://doi.org/10.1093/ejendo/lvae050


2. Gravholt CH, Viuff M, Just J, Sandahl K, Brun S, van der Velden J, et al. The changing face of Turner syndrome. Endocr Rev. 2023;44(1):33-69. https://doi.org/10.1210/endrev/bnac016


3. Kanakatti Shankar R, Quigley CA, Isojima T, et al. Growth and growth-promoting treatments in Turner syndrome. Am J Med Genet C Semin Med Genet. 2025;199(1):e32133. https://doi.org/10.1002/ajmg.c.32133


4. de Groote K, Patel SR, Mortensen KH, et al. Management of cardiovascular health issues in Turner syndrome: Expert insights and expanded recommendations from the 2024 guideline development team. Am J Med Genet C Semin Med Genet. 2025;199(2):51-71. https://doi.org/10.1002/ajmg.c.32139


5. Whigham CA, Vollenhoven B, Vincent AJ. Reproductive health in Turner syndrome: A narrative review. Prenat Diagn. 2023;43(2):261-271. https://doi.org/10.1002/pd.6261


6. Norman MZ, Hutaff-Lee C, Knickmeyer RC, et al. Turner syndrome and psychosocial interventions: Recommendations for collaborative communication between medical and school teams. Am J Med Genet C Semin Med Genet. 2025;199(1):e32134. https://doi.org/10.1002/ajmg.c.32134

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