Turner syndrome

Symptoms

What are the main symptoms of Turner syndrome?

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.

References
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Turner Syndrome. The Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/turner-syndrome
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Learning About Turner Syndrome. The National Human Genome Research Institute website. https://www.genome.gov/19519119/
  • Culen C, Ertl DA, Schubert K, Bartha-Doering L, Haeusler G. Care of girls and women with Turner syndrome: beyond growth and hormones. Endocr Connect. 2017;6(4):R39-R51. http://www.endocrineconnections.com/content/6/4/R39.full.pdf+html
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More Symptoms Content

How does ovarian failure affect girls with Turner syndrome?

What are the main symptoms of Turner syndrome affecting the heart?

What are the main symptoms of Turner syndrome affecting the kidneys?

Does Turner syndrome affect intelligence?

Are there different subtypes of Turner syndrome?

What are the main symptoms of Turner syndrome affecting the thyroid?

How does ovarian failure affect girls with Turner syndrome?

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.

References
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
What are the main symptoms of Turner syndrome affecting the heart?

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.

References
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351(12):1227-38. http://www.nejm.org/doi/full/10.1056/NEJMra030360#t=article
What are the main symptoms of Turner syndrome affecting the kidneys?

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.

References
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
Does Turner syndrome affect intelligence?

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.

References
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351(12):1227-38. http://www.nejm.org/doi/full/10.1056/NEJMra030360#t=article
Are there different subtypes of Turner syndrome?

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.

References
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351(12):1227-38. http://www.nejm.org/doi/full/10.1056/NEJMra030360#t=article
What are the main symptoms of Turner syndrome affecting the thyroid?

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.

References
  • Backeljauw P. Clinical manifestations and diagnosis of Turner syndrome. UpToDate Inc. website. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome
  • Turner Syndrome. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/turner-syndrome/
  • Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351(12):1227-38. http://www.nejm.org/doi/full/10.1056/NEJMra030360#t=article

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