What are the symptoms and effects of Turner's Syndrome?

Answer 1

What is Turner syndrome?
Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems.

This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).

Turner syndrome is a chromosomal condition related to the X chromosome. [ghr.nlm.nih.gov]

Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

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What are the symptoms of Turner syndrome?
Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt.

Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl's ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty.

Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.

In early childhood, girls who have Turner syndrome may have frequent middle ear infections. Recurrent infections can lead to hearing loss in some cases.

Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. Some girls, however, have problems with math, memory skills and fine-finger movements.

Additional symptoms of Turner syndrome include the following:
An especially wide neck (webbed neck) and a low or indistinct hairline.
A broad chest and widely spaced nipples.
Arms that turn out slightly at the elbow.
A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart).
A tendency to develop high blood pressure (so this should be checked regularly).
Minor eye problems that are corrected by glasses.
Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome.
The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement
Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes.
Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
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How is Turner syndrome diagnosed?
A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet.

The two main clinical features of Turner syndrome are short stature and the lack of the development of the ovaries.

Many girls are diagnosed in early childhood when a slow growth rate and other features are identified. Diagnosis sometimes takes place later when puberty does not occur.

Turner syndrome may be suspected in pregnancy during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells from the unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the baby may be under the care of a specialist pediatrician immediately after birth.

Diagnosis is confirmed by a blood test, called a karyotype. This is used to analyze the chromosomal composition of the female. More information about this will be discussed in the section "Is Turner syndrome inherited?"

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What is the treatment for Turner syndrome?
During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism.

Growth hormone injections are beneficial in some individuals with Turner syndrome. Injections often begin in early childhood and may increase final adult height by a few inches.

Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development. Estrogen and progesterone are given a little later to begin a monthly 'period,' which is necessary to keep the womb healthy. Estrogen is also given to prevent osteoporosis.

Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. A heart expert (cardiologist) will assess and follow up any treatment necessary.

Girls who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist (ENT) may be involved in caring for this health issue.

High blood pressure is quite common in women who have Turner syndrome. In some cases, the elevated blood pressure is due to narrowing of the aorta or a kidney abnormality. However, most of the time, no specific cause for the elevation is identified. Blood pressure should be checked routinely and, if necessary, treated with medication. Women who have Turner syndrome have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored during routine health maintenance visits and treated if necessary.

Regular health checks are very important. Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important.

Almost all women are infertile, but pregnancy with donor embryos may be possible.

Having appropriate medical treatment and support allows a woman with Turner syndrome to lead a normal, healthy and happy life.
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Is Turner syndrome inherited?
Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.

Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.

In Turner syndrome, the girl does not have the usual pair of two complete X chromosomes. The most common scenario is that the girl has only one X chromosome in her cells. Some girls with Turner syndrome do have two X chromosomes, but one of the X chromosomes is incomplete. In another scenario, the girl has some cells in her body with two X chromosomes, but other cells have only one. This is called mosaicism.

Answer 2

Symptoms Of Turner Syndrome

Answer 3

Turner syndrome is a genetic condition that occurs only in females. Female cells normally have two X chromosomes. In Turner syndrome, cells are missing all or part of an X chromosome.

Possible symptoms include a combination of:

* Short height
* Webbed neck
* Drooping eyelids
* Broad, flat chest shaped like a shield
* Absent or incomplete development at puberty, including sparse pubic hair and small breasts
* Infertility
* Dry eyes
* Absent menstruation
* Vaginal dryness, can lead to painful intercourse

Those with Turner syndrome can have a normal life when carefully monitored by their doctor.

Complications

* Heart defects
* Kidney abnormalities
* High blood pressure
* Obesity
* Diabetes
* Hashimoto's thyroiditis
* Cataracts
* Arthritis
* Scoliosis (in adolescence)
* Middle ear infections -- common with eustachian tube abnormalities

Prevention

There is no known way to prevent Turner syndrome.

Answer 4

Turner Syndrome Photos

Answer 5

Turner syndrome is a rare chromosomal disorder of females characterized by short stature and the lack of sexual development at puberty. Other physical features may include a short neck with a webbed appearance, heart defects, kidney abnormalities, and/or various other malformations. Among affected females, there is also a heightened incidence of osteoporosis, type II diabetes, and hypothyroidism. There appears to be great variability in the degree to which girls with Turner syndrome are affected by any of its manifestations.

Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the division (meiosis) of sex cells.

Answer 6

Turner's syndrome is a chromosomoal condition, which affects girls.It occurs when one of the two X chromosomes found in females is missing or incomplete. The syndrome is named after Dr.Henry Turner, who was the first to describe its features in 1930's.

Answer 7

Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X chromosome or they are missing part of one X chromosome. The effects of the condition vary widely among girls with Turner syndrome. It all depends on how many of the body's cells are affected by the changes to the X chromosome. Girls with Turner syndrome are usually short in height. Girls with Turner syndrome who aren't treated reach an average height of about 4 feet 7 inches (1.4 meters). The good news is that when Turner syndrome is diagnosed while a girl is still growing, she can be treated with hormones to help her grow taller. In addition to growth problems, Turner syndrome prevents the ovaries from developing properly, which affects a girl's sexual development. Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with Turner syndrome will not go through all of the changes associated with puberty unless they get treatment for the condition. Nearly all girls with Turner syndrome will be infertile, or unable to become pregnant on their own. There are a number of other health problems that occur more often in girls with Turner syndrome. These include kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, cataracts, and thyroid problems. Some girls with the condition may experience learning difficulties, particularly in math. Many have a difficult time with tasks that require skills such as map reading or visual organization. In addition to short stature and lack of sexual development, some of the other physical features commonly seen in girls with Turner syndrome are: - a "webbed" neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck) - a low hairline at the back of the neck - drooping of the eyelids - differently shaped ears that are set lower on the sides of the head than usual - abnormal bone development (especially the bones of the hands and elbows) - a larger than usual number of moles on the skin Because Turner syndrome can affect how a girl looks and develops, some girls may have problems with body image or self-esteem. People with TS are all different. Some may have many physical differences and symptoms, whereas others experience only a few medical problems. With early and appropriate medical care and ongoing support, most people with TS can lead normal, healthy, and productive lives.

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Answer 8

Turner Syndrome

What is Turner syndrome?
Turner syndrome is a genetic disorder affecting only females, in which the patient has one X chromosome in some or all cells; or has two X chromosomes but one is damaged. Signs of Turner syndrome include short stature, delayed growth of the skeleton, shortened fourth and fifth fingers, broad chest, and sometimes heart abnormalities. Women with Turner syndrome are usually infertile due to ovarian failure. Diagnosis is by blood test(karyotype).

Turner syndrome affects approximately 1 out of every 2,500 female live births worldwide. It embraces a broad spectrum of features, from major heart defects to minor cosmetic issues. Some individualswith Turner syndrome may have only a few features, while others may have many.Almost all people with Turner syndrome have short stature and loss of ovarianfunction, but the severity of these problems varies considerably amongstindividuals.

General Appearance
Individuals with Turner syndrome may have a short neck with a webbed appearance, a low hairline at the back of the neck, and low-set ears. Hands and feet of affected individuals may be swollen or puffy at birth, and often havesoft nails that turn upward at the ends when they are older. All these featuresappear to be due to obstruction of the lymphatic system during fetal development. Another characteristic cosmetic feature is the presence of multiple pigmented nevi, which are colored spots on the skin.

Stature
Almost all individuals with Turner syndrome have short stature. This is partially due to the loss of action SHOX gene on the X-chromosome. This particular gene is important for long bone growth. The loss of SHOX may also explain some of the skeletal features found in Turner syndrome, such as short fingers and toes, and irregular rotations of the wrist and elbow joints. Lineargrowth is attenuated in utero, and statural growth lags during childhood and adolescence, resulting in adult heights of 143-145 cm (approximately 4 feet 8 inches). Final adult height in Turner syndrome can be increased by a few inches if growth hormone (GH) treatment is given relatively early in childhood.However, not all individuals with Turner syndrome get a good growth response toGH.

Puberty/Reproduction
Unknown genes on the X-chromosome regulate the development and functions of the ovary. Most individuals with Turner syndrome experience loss of ovarian function early in childhood, and thus do not enter puberty at the normal age.

Related Links on MedicineNet.com

Answer 9

What is Turner syndrome?

Turner syndrome is a chromosomal condition that exclusively affects girls and women. It occurs when one of the two X chromosomes normally found in females is missing or incomplete. The syndrome is named after Dr. Henry Turner, who was among the first to describe its features in the 1930's.


2. What causes Turner syndrome?

Turner syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in women.



3. How is Turner syndrome diagnosed?

A blood test, called a karyotype, analyzes the chromosomal composition of the individual. This is the most commonly used blood test to diagnose Turner syndrome.



4. Does any one thing cause Turner syndrome?

No. Turner syndrome is not associated with any environmental or any other factors generally associated with genetic problems. Despite many efforts, no real causes have been found to be linked to this condition. It appears to be a random event that can happen to anyone.



5. What are the most common characteristics of Turner syndrome?

The most common characteristics of Turner syndrome include short stature and lack of ovarian development. A number of other physical features, such as webbed neck, arms that turn out slightly at the elbow, and a low hairline in the back of the head are sometimes seen in Turner syndrome patients. Individuals with Turner syndrome are also prone to cardiovascular problems, kidney and thyroid problems, skeletal disorders such as scoliosis (curvature of the spine) or dislocated hips, and hearing and ear disturbances.



6. What can be done?

As a chromosomal condition, there is no "cure" for Turner syndrome. However much can be done to minimize the symptoms. For example:


Growth hormone, either alone or with a low dose of androgen, will improve growth velocity and probably final adult height. Growth hormone is approved by the Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans.


Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are also important for maintaining good tissue and bone integrity.


Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.




7. Are there other problems associated with having Turner syndrome?

Sometimes. Heart problems, kidney problems or thyroid problems are the most frequent health problems that can occur. While they are usually not too serious, they do require good consistent medical care and management by a qualified sub-specialist. Not everyone has every problem associated with this condition.



8. How often does Turner syndrome occur?

Turner syndrome is among the most common chromosomal abnormalities, occurring in about 1 out of 2500 live female births. Approximately 60,000 girls and women are affected in the United States, with approximately 800 new cases being diagnosed each year.



9. What is the life expectancy of a woman with Turner syndrome?

There is not much information available on this issue. It is currently believed that with regular, competent medical care, a woman with Turner syndrome can lead a full, productive life.



10. Are Turner syndrome women mentally retarded?

No. There is no connection between Turner syndrome and mental retardation. There may be some differences in learning style that make verbal learning come more easily and math or spatial problems more difficult. Despite these challenges, women with Turner syndrome can lead productive successful lives in many different types of careers.



11. When was Turner syndrome identified?

Dr. Henry Turner, an internist from the University of Oklahoma, first identified a set of common physical features in seven of his patients in an article published in 1938. The chromosomal deficiency that now defines Turner syndrome wasn't discovered until 1959, when the technology to perform karyotypes became available.



12. Where can I get more information?

The Turner Syndrome Society - United States has more complete information available under "Publications Available." You can also contact us at:


Turner Syndrome Society
14450 T.C. Jester, Suite 260
Houston, TX 77014, USA


Tel:
800-365-9944

832-249-9988


Fax:
832-249-9987


Email:
[e-mail]

Answer 10

Short height
Webbed neck
Drooping eyelids
Broad, flat chest shaped like a shield
Absent or incomplete development at puberty, including sparse pubic hair and small breasts
Infertility
Dry eyes
Absent menstruation
Vaginal dryness, can lead to painful intercourse

Answer 11

Women's growth is stunted, and they do not go through puberty.
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