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.

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.

Turner syndrome is caused by a change in a chromosome. Most girls have are missing part or all of one of their two X chromosomes in all or some of the cells of the body. The loss of all or part of the X chromosome almost always occurs randomly as a spontaneous event and is not inherited. The likelihood of parents with a child with Turner syndrome having another child with the disorder is no different from what it is for any other couple, which is very unlikely. Families can get a child tested for Turner syndrome if they have concerns through a simple blood test that evaluates the size, shape and number of chromosomes. This test is called karyotyping and can detect an altered or missing X chromosome.

Support groups can put you in contact with other people or families that have Turner syndrome. 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.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders. Facebook and other social media websites often have groups for people looking to meet and share experiences with other people or families with the same diagnosis.

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.

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.

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.

The main test used to diagnose Turner syndrome is called karyotyping. This involves taking a small blood sample and studying it to evaluate a person’s chromosomes. Karyotyping allows a doctor to examine the size, shape and number of a person’s chromosomes. This test will detect a missing or altered X chromosome that causes Turner syndrome.

Sometimes Turner syndrome is diagnosed before birth. This usually happens incidentally because doctors were testing a fetus for unrelated reasons. Sometimes, a routine fetal ultrasound called a sonogram may show abnormalities that are associated with Turner syndrome like kidney abnormalities or congenital heart defects.

After a diagnosis of Turner syndrome is made, doctors may run additional tests to see how Turner syndrome is affecting an individual. They may run tests to evaluate the heart, kidneys, ears, eyes, and other organs commonly affected by Turner syndrome. These tests can include advanced imaging (x-ray) techniques like magnetic resonance imaging or ultrasound.

Turner syndrome is a rare disorder that affects females. Most girls are very short for their age and don’t experience normal growth spurts. If untreated, women with Turner syndrome will be very short as adults. Girls and women may also have a square-shaped chest with nipples that are farther apart than usual. Most girls experience premature ovarian failure. The ovaries, which are the two tiny glands that produce eggs and make certain hormones, do not function properly or are absent. This affects a girl’s sexual development and ability to have children. Most girls will not go through puberty unless they are treated with female hormones. Even with treatment, most girls are infertile. Some girls and women may have problems with the heart and blood vessels that can cause serious complications. Intelligence is usually not affected, but some girls or women may have trouble with certain mental skills like math or nonverbal memory or spatial relationships. Turner syndrome can be associated with many other problems including hearing loss, eye abnormalities, kidney issues, liver issues, and thyroid disease. There is no cure for Turner syndrome, but there are treatments for many of the problems that develop. The disorder can affect girls very differently. Some girls will have a mild form and may go undiagnosed well into adulthood, while other girls have very severe symptoms in infancy or childhood that affect their quality of life.

Turner syndrome is a chromosomal disorder. Chromosomes are found in the nucleus of every cell. Chromosomes carry the genetic material of a person in the form of genes. Most people have 46 chromosomes; 23 inherited from their mother and 23 from their father. Twenty-two chromosomes are the same in girls and boys, but girls have two X chromosomes and boys have one X and one Y chromosome. These are called the sex chromosomes because they determine the sex of a person. In most instances, Turner syndrome is not inherited and the disorder occurs when all or some of one of the X chromosomes in a girl is missing. When all of a chromosome is missing, it is called a deletion. When all of a chromosome is missing, it is called a monosomy. The abnormalities affecting the X chromosome may occur in only a percentage of cells in the body; this is called mosaicism. Generally, the more cells that contain the abnormal or missing chromosome, the worse a disorder will be. The loss of all or part of the X chromosome that causes Turner syndrome occurs after the egg has been fertilized and appears to be a random event. There is nothing the parents did to cause the disorder. Turner syndrome is one of the most common chromosomal disorders. In rare instances, Turner syndrome is caused because genetic material on the X chromosome is duplicated or the chromosome forms a ring or also has genetic material from the Y chromosome.

Support groups offer extensive information about Turner syndrome. The Turner Syndrome Society of the United States offer a detailed guide called Turner Syndrome: A Guide for Families.

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.

Rare diseases that affect multiple organ systems like Turner syndrome can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. The specific doctors who will treat a person with Turner syndrome depends on the specific symptoms in an individual.

A multidisciplinary team for Turner syndrome may require a specialist who can assess and treat disorders of the heart and blood vessels (cardiologist); a specialist who can assess and treat disorders of the bone, joints and skeleton (orthopedist); a specialist who can assess and treat disorders of the ear, nose, and throat (otolaryngologist); a specialist who can assess and treat disorders of the kidneys (nephrologist); a specialist who can assess and treat disorders of the brain and central nervous system in children (pediatric neurologist); a specialist to diagnose and treat the hormonal issues (pediatric endocrinologist; adult endocrinologist); a specialist who can treat hearing loss; a specialist who can diagnose and treat disorders of the eye in children (pediatric ophthalmologist); a genetic counselor who can help people understand the disease and the implications for the person; a metabolic disease specialist; a social worker; obstetrician and gynecologist: and a psychiatrist.

Talk to your doctor about the best specialists in your area to follow an individual with Turner syndrome.

Turner syndrome is caused by the complete or partial loss of one of the two X chromosomes in girls. When all of a chromosome is missing, this can be called a monosomy. When part of a chromosome is missing, this can be called a deletion. In rare instances, Turner syndrome is caused because genetic material on the X chromosome is duplicated or the chromosome forms a ring or also has genetic material from the Y chromosome. The altered or missing X chromosome may occur in all the cells of a girl’s body, or may occur only in a percentage of cells with the remaining cells having two unaltered X chromosomes. This is called mosaicism. Generally, more cells that carry the abnormality, the more severe a disorder is. Turner syndrome is usually not inherited; the complete or partial loss (deletion) of the X chromosome usually occurs after the egg has been fertilized and appears to be a random event. There is nothing the parents did to cause the disorder.

Chromosomes are found in the nucleus of every cell. Chromosomes carry the genetic material of a person in the form of genes. They have a long arm called ‘q’ and a short arm called ‘p’. Genes on the X chromosome influence many different systems in the body. It is the loss of these genes that causes the signs and symptoms of Turner syndrome. Most people have 46 chromosomes; 23 inherited from their mother and 23 from their father. Twenty-two chromosomes are the same in girls and boys, but girls have two X chromosomes and boys have one X and one Y chromosome. These are called the sex chromosomes because they determine the sex of a person. Because boys only have one X chromosome, Turner syndrome is not compatible with life in a boy and leads to miscarriage or stillbirth.

About half of the girls with Turner syndrome, have monosomy X, which means that one entire X chromosome is missing in some (mosaicism) or all of their cells. Some girls have a partial loss (deletion) of one X chromosome in some or all of their cells. There are other abnormalities of the X chromosome that can cause Turner syndrome. Ring chromosome X is when both ends of the one of the X chromosomes break off and then the remaining ends combine to form a ring. This can cause severe problems including intellectual disability. Isochromosome Xq is when there is an extra (duplicated) copy of the long arm (q) of the X chromosome. Sometimes, in addition to a partial or complete loss of one X chromosome, there is genetic material from the Y chromosome in some cells of the body.

The genetic changes causing Turner syndrome are complex. Parents and individuals should talk with a medical geneticist or a genetic counselor. To find a medical professional nearby who can discuss information about Turner syndrome, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

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.

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.

Except for very rare instances, Turner syndrome is not inherited. The disorder is caused by the complete or partial loss of one of a girl’s two X chromosomes. This occurs as a random event after fertilization. There is nothing the parents did to cause this chromosomal change and the likelihood of parents having another child with Turner syndrome is no different from any other couple, which means it is highly unlikely. Parents should talk to a genetic counselor about the genetic aspects of Turner syndrome and how it affects the family.

Turner syndrome can affect girls very different. There are many different problems that can be associated with the disorder. Some women will go undiagnosed well into adulthood because their symptoms are so mild, while others girls with have obvious problems in childhood, infancy or, sometimes, before birth.

The two most common symptoms of Turner syndrome are short stature and premature ovarian failure. Most girls are very short for their age and don’t experience normal growth spurts. If untreated, women with Turner syndrome will be very short. Premature ovarian failure is when the ovaries, which are the two tiny glands that produce eggs and make certain hormones, do not function properly or are absent. This affects a girl’s sexual development and ability to have children. Most girls will not go through puberty and may not grow breasts unless they are treated with female hormones.

There are physical changes that affect some girls with Turner syndrome. These changes are usually mild or absent, but some girls do develop changes. Sometimes, these changes are apparent at birth. Some infants may have puffy hands and feet at birth because fluid builds up in these areas (edema). Some will have a short neck with extra folds of skin on both sides of the neck (webbed neck) and a low hairline on the back of the head. The fingernails and toenails may be narrow or malformed. The roof of the mouth called the palate can be abnormally high and narrow. Girls and women may also have a square-shaped chest with nipples that are farther apart than usual. Their elbows may stick outward away from the body when they extend their arms, a condition called cubitus valgus. They may have an usual amount of moles on the skin.

Intelligence is usually not affected, but some girls or women may have trouble with certain mental skills like math or nonverbal memory. They may learn and perform better verbally rather than nonverbally. Usually, girls have normal verbal and reading skills. 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. Some girls have problems with social cognition; this is the ability to read social cues like facial expressions or body language. Some girls have frequency middle ear infections called otitis media. These infections can sometimes cause hearing loss.

Girls and women may have problems with heart and blood vessels that can cause serious complications. About one-third to one-half of girls are born with a heart defect. These heart defects can affect the valves that connect the chambers of the heart to each other or to blood vessels. The main artery that carries blood away from the heart, called the aorta, can be abnormally narrow. This is called coarctation of the aorta. There may be a heart murmur associated with narrowing of the aorta. Girls and women with Turner syndrome are at risk of the aorta rupturing, a life-threatening complication.

There are additional symptoms that can occur. This can include an underactive thyroid gland, problems with the kidneys, problems with the gastrointestinal system, dry skin, minor eye issues that are correctable with glasses, abnormal curving of the spine called scoliosis or kyphosis. Girls and women with Turner syndrome appear to be a greater risk of having or developing high blood pressure, obesity, diabetes, and, as they age, low bone density called osteoporosis.

Some women with Turner syndrome have problems with their thyroid glands. The thyroid gland is in the neck and produces hormones that regulate several functions of the body. In Turner syndrome, the immune system mistakenly attacks the thyroid gland. This is called autoimmune thyroiditis. Thyroiditis means inflammation of the thyroid. The thyroid will be underactive and will not produce the proper amount of thyroid hormone. This is called hypothyroidism. Symptoms can be different in women with hypothyroidism. Common symptoms include dry skin, weight gain, constipation, and muscle aches. Usually, this occurs in the 20s, but in rare instances, can occur before adolescence. The American Thyroid Foundation has more information on autoimmune thyroiditis.

Some girls with Turner syndrome have problems with their kidneys. These problems are present at birth (congenital). They can include malformations of parts of the kidneys, abnormal positioning or malrotation of the kidneys, absence of a kidney, or horseshoe kidneys, where the kidneys are fused together to form a horseshoe shape.

Not all girls with Turner syndrome will develop kidney problems, but all girls should have their kidneys evaluated. Girls with kidney problems should be seen by a specialist trained in the diagnosis and treatment of the kidney, called a nephrologist. The National Kidney Foundation can provide information on problems affecting the kidneys.

Girls with Turner syndrome may have problems with their hearts or blood vessels. This is called the cardiovascular system. These heart defects can be very serious. They can affect the valves that connect the chambers of the heart to each other or to blood vessels. A common condition is called bicuspid aortic valve. This valve connects the lower left chamber of the heart (left ventricle) to the main artery of the body (aorta). The aorta carries blood away from the heart to the rest of the body. The aortic valve normal has three flaps, but in some girls, there is only two flaps. This may or may not cause symptoms.

Other heart problems that girls can develop include ventricular or atrial septal defects, which are more commonly called having a "hole in the heart"; problems with the veins in the lungs; and coarctation of the aorta, in which the aorta is narrowed. This condition causes the heart to pump harder in order to push blood through the narrowed aorta. Coarctation of the aorta can be mild and go undiagnosed, or it can be serious causing pale skin, sweating, and difficulty breathing. Some girls are at risk for aortic dissection. This is a serious, life-threatening condition where the aorta ruptures. The risk of aortic dissection is highest during pregnancy.

Girls and women with Turner syndrome are at a higher risk of developing high blood pressure than people without the disorder. Patients should undergo a complete heart evaluation and they should be seen by a specialist who is trained in diagnosing and treating problems of the heart and blood vessels (cardiologist) as part of their medical team.

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.

Turner syndrome is a genetic disorder. However, in most instances, it is not inherited. Turner syndrome is usually caused by the complete or partial loss of one of the two X chromosomes in girls. Turner syndrome usually occurs after the egg has been fertilized and appears to be a random event. Nothing the parents did caused the disorder to happen. When all of a chromosome is missing, this can be called a monosomy. When part of a chromosome is missing, this can be called a deletion. There are other abnormalities of the X chromosome that can cause Turner syndrome. Ring chromosome X is when both ends of the one of the X chromosomes break off and then the remaining ends combine to form a ring. This can cause severe problems including intellectual disability. Isochromosome Xq is when there is an extra (duplicated) copy of the long arm (q) of the X chromosome. Sometimes, in addition to a partial or complete loss of one X chromosome, there is genetic material from the Y chromosome in some cells of the body. The altered or missing X chromosome may occur in all the cells of a girl’s body, or may occur only in a percentage of cells (mosaicism) with the remaining cells having two unaltered X chromosomes.

Chromosomes are found in the nucleus of every cell. Each one has a long arm called ‘q’ and a short arm called ‘p’. Chromosomes carry the genetic material of a person in the form of genes. It is the loss of these genes that cause the signs and symptoms of Turner syndrome. Most people have 46 chromosomes; 23 inherited from their mother and 23 from their father. Twenty-two chromosomes are the same in girls and boys, but girls have two X chromosomes and boys have one X and one Y chromosome. These are called the sex chromosomes because they determine the sex of a person.

Turner syndrome is not one of the disorders that is screened for at birth. If a baby appears to have health problems that could be caused by Turner syndrome, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor, to find a genetic counselor visit the National Society of Genetic Counselors Find a Genetic Counselor website. Information about newborn screening programs can be found at Save Babies Through Screening Foundation or Baby’s First Test.

As of April 2017, there are about 136 different clinical trials involving Turner syndrome listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not an exhaustive list of current research. Current studies are looking at various new treatments such as new medical therapies including new drug therapies; evaluating the best uses of existing therapies; assessing the risk of conditions like diabetes, liver disease, heart disease or skeletal problems; and studies evaluating the social and behavioral impact of Turner syndrome.

For the most up-to-date list, contact clinicaltrials.gov and search 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.

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.

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.

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.

Premature ovarian failure is one of the most common symptoms of Turner syndrome. This is when the ovaries do not develop properly or are absent. This is a form of gonadal dysgenesis, which is when there is a developmental disorder of the reproductive system. The ovaries are the two glands of the female reproductive tract that produce and releases eggs and produce the female hormones, estrogen and progesterone. These hormones are necessary for puberty to occur and for the development of a girl’s secondary sexual characteristics like breast development or widening of the hips to accommodate child birth.

Unless treated, most girls will not develop their period (amenorrhea) and will not develop secondary sexual characteristics. For example, their breasts may fail to develop, or begin to development and then stop. In a small percentage of girls, there is have normal development during puberty and they begin their periods normally. However, most of these girls will stop having their periods and stop developing sexually later during their teens.

The diagnosis of Turner syndrome can be made at almost any age, from before birth (prenatally) to well into adulthood. Doctors may suspect a diagnosis Turner syndrome because of specific symptoms. At birth, a webbed neck, congenital heart defects or swollen hands or feet may lead to suspicion of the disorder. During childhood, slow growth and other physical changes may lead to a diagnosis. Teen-aged girls who are small for their age, have nipples that are widely spaced apart, or fail to undergo puberty or get their period may be tested for Turner syndrome.

To test for Turner syndrome, doctors will take a blood sample and use this sample to examine a person’s chromosome makeup. This is called karyotyping. Karyotyping allows a doctor to examine the size, shape and number of a person’s chromosomes. This test will detect a missing or altered X chromosome.

Sometimes Turner syndrome is diagnosed before birth. This usually happens incidentally because doctors were testing a fetus for unrelated reasons. Sometimes, a routine fetal ultrasound called a sonogram may show abnormalities that are associated with Turner syndrome like kidney abnormalities or congenital heart defects.

If you believe that you or your child has Turner syndrome, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. There are Turner syndrome clinics in the United States that specialist in this disorder. The Turner Syndrome Society and the Turner Syndrome Foundation have information on these clinics. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

Usually, Turner syndrome is not inherited. Even so, if you suspect that someone in your family has Turner syndrome, you should also talk to a genetic counselor in your area.

To learn about ongoing clinical research into Turner syndrome ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial.

Ongoing studies for Turner syndrome can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. 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.

The best way to obtain the most accurate, current, clear, and comprehensive information on Turner syndrome is to be seen at a Turner syndrome clinic at certain hospitals or medical centers. One of the best ways to find a treatment center or physician with experience in treating Turner syndrome is to contact a support group. Supports 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.

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.

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.

Turner syndrome is estimated to occur in 1 in 2,000 to 2,500 live female births. It is estimated that only 1% of pregnancies with a fetus that has Turner syndrome results in a live birth. Turner syndrome is a cause of stillbirth or miscarriage. The disorder is caused by the loss of part or all of the X chromosome in some or all of the cells of the body.

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.

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.

Almost all girls with Turner syndrome have normal intelligence. 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. This may make it difficult for girls to perform certain tasks like driving a car.

They may struggle with math and nonverbal memory skills, which means they have problems remembering what they read. 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. 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 can make it difficult to make and maintain friendships and relationships.

About 10% of girls will have significant delays in reaching their developing milestones and require special education. Intellectual disability is possible, 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.

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.

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.

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.

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.

Turner syndrome can be diagnosed before birth. This is called prenatal diagnosis. This usually happens incidentally because doctors were testing a fetus for unrelated reasons. Sometimes, a routine fetal ultrasound may show abnormalities that are associated with Turner syndrome like kidney abnormalities or congenital heart defects. A fetal ultrasound, also called a sonogram, is a specialized imaging (x-ray) technique that uses high-frequency sound waves to create a picture of the developing fetus.

Prenatal testing can also be done by studying fetal cells. A sample of tissue for testing can be taken from the placenta. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied. The cells are studied to determine the makeup of the chromosomes and will show an altered or missing X chromosome. There are risks for such procedures.

Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis. To find a genetic counselor near you visit www.nsgc.org.

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.

Most doctors and medical personnel refer to this disorder as Turner syndrome. This is the most common name for this disorder. It is named for Henry Turner who, in 1938, was one of the first doctors to describe this disorder in the medical literature. There are a few other names that might be used or may appear in the medical literature.

There are a few support groups or organizations for Turner syndrome. These groups provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. 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.

The Turner Syndrome Society of the United States provides a detailed guide for families who have received a diagnosis of 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.

There are different types of Turner syndrome. Turner syndrome is a chromosomal disorder. Chromosomes are found in the nucleus of every cell. Chromosomes carry the genetic material of a person in the form of genes. They have a long arm called ‘q’ and a short arm called ‘p’. Genes on the X chromosome influence many different systems in the body. It is the loss of these genes that causes the signs and symptoms of Turner syndrome. Most people have 46 chromosomes; 23 inherited from their mother and 23 from their father. Twenty-two chromosomes are the same in girls and boys, but girls have two X chromosomes and boys have one X and one Y chromosome. These are called the sex chromosomes because they determine the sex of a person. Because boys only have one X chromosome, Turner syndrome is not compatible with life in a boy and leads to miscarriage or stillbirth.

Some girls are missing an X chromosome in all cells of the body. This is called monosomy X, 45,X or 45,XO. Some girls are missing part of one X chromosome. This is a called a deletion. In some girls, only a percentage of cells may be affected by a chromosomal abnormality. This is called mosaicism. Although all of these girls and women have Turner syndrome, their chromosomal makeup can be different.

Less often, Turner syndrome is caused by something other than a complete or partial loss of the X chromosome. Some girls have isochromosome X, in which one arm of a chromosome is missing and replaced with the other arm of the chromosome. Some girls have ring chromosome X. This is when the ends of an X chromosome break off and the remaining ends fuse or join together to form a ring.

There are also girls or women who have Y chromosome material. This is called 45,X/46XY. This means some of the cells are missing one X chromosome and other cells have cells with genetic material from the 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.