Posts Tagged Turner’s Syndrome

Omphalocele

Posted by on Sunday, 9 May, 2010

Is an omphalocele is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in its mother’s uterus. Some of the abdominal organs protrude through an opening in the abdominal muscles in the area of the umbilical cord. A translucent membrane covers the protruding organs.

The omphalocele may be small, with only a portion of the intestine protruding outside the abdominal cavity, or large, with most of the abdominal organs (including intestine, liver, and spleen) present outside the abdominal cavity. Further, the abdominal cavity itself may be small due to underdevelopment during pregnancy.

omphalocele

As a fetus is growing in the mother’s uterus before birth, different organ systems are developing and maturing. Between the 6th and the 10th weeks of pregnancy, the intestines actually project into the umbilical cord as they are growing. By the 11th week of development, the intestines should return to the abdomen. When the fetus is growing and developing during pregnancy, there is a small opening in the abdominal muscles that the umbilical cord can pass through, connecting the mother to the fetus. As the fetus matures, the abdominal muscles should meet in the middle and grow together, closing off this opening. An omphalocele occurs when the abdominal organs do not return to the abdominal cavity as they should.
It is not known what causes omphalocele. Steps that normally happen in the development of the abdominal organs and muscles simply did not happen properly. It is not known to be caused by anything the mother did during pregnancy.

When an omphalocele is isolated (no other birth defects are present), the risk for it to happen in a future pregnancy is one percent or one in 100. There are some families that have been reported to have an omphalocele inherited as an autosomal dominant or X-linked recessive trait. In these cases, the chance for reoccurrence would be higher.

Many babies born with an omphalocele also have other abnormalities. The chance for reoccurrence depends upon the underlying disorder. Thirty percent have a chromosomal (genetic) abnormality, most commonly Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome, or triploidy.

Some infants with omphalocele have a syndrome known as Beckwith-Wiedemann syndrome.
More thanĀ half of babies with omphalocele have abnormalities of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs.

A “small” type omphalocele (involving protrusion of a small portion of the intestine only) occurs in one out of every 5,000 live births. A “large” type omphalocele (involving protrusion of the intestines, liver, and other organs) occurs in one out of every 10,000 live births. More boys than girls are affected with omphalocele.
Since some or all of the abdominal organs are outside the body, infection is a concern, especially if the protective membrane around the organs breaks. Also, an organ may lose its blood supply if it becomes pinched or twisted. A loss of blood flow can damage the affected organ.

Omphalocele can often be detected on fetal ultrasound in the second and third trimesters of pregnancy. A fetal echocardiogram (ultrasound of the heart) may also be done to check for heart abnormalities before the baby is born. After birth, the omphalocele can be noted by the physician during the physical examination. X-rays (diagnostic tests which use invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film) may also be done after birth to evaluate abnormalities of other organs or body parts.

Specific treatment for an omphalocele will be determined by your baby’s physician based on the following:
your baby’s gestational age, overall health, and medical history the extent of the condition
your baby’s tolerance for specific medications, procedures, or therapies expectations for the course of the condition your opinion and preference.,/p>

For a “small” omphalocele (only a portion of the intestine protruding outside the abdominal cavity), shortly after birth, an operation is done to return the organs to the abdomen and close the opening in the abdominal wall.

For a “large” omphalocele (most of the abdominal organs, including intestine, liver, and spleen are present outside the abdominal cavity), the repair is done in “stages” and may include the following:
Initially, sterile, protective sheeting is placed over the abdominal organs. Because the abdomen may be small and underdeveloped, it may not be able to hold all of the organs at once. Therefore, the exposed organs are gradually moved back into the abdomen over several days or weeks. The abdominal wall is closed surgically once the organs have been returned to the abdominal cavity. Also because of underdevelopment and small size of the abdominal cavity the organs may be swollen, a baby with an omphalocele may have breathing difficulties as the organs are returned to the abdomen. Your baby may need help from a breathing machine called a mechanical ventilator while the swelling is decreasing and the size of the abdominal cavity is increasing.

Problems in the future often depend on:

  • The size of the omphalocele.
  • If there was a loss of blood flow to part of the intestine or other organs.

the extent of other abnormalities.

Babies who have damage to the intestines or other abdominal organs may have long-term problems with digestion, elimination, and infection.


Turner’s Syndrome

Posted by on Sunday, 11 April, 2010

Turner syndrome (TS) is a medical disorder that affects about 1 in every 2,500 girls. Although researchers don’t know exactly what causes Turner syndrome, they do know that it’s the result of a problem with a girl’s chromosomes.

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 for short stature 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 growth 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 and the ability to have children. 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.

Other Effects Turner Syndrome Can Have

A number of other health problems occur more often in girls with Turner syndrome, including kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, 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
  • Edema or extra fluid in the hands and feet

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.

Diagnosing Turner Syndrome

Girls with Turner syndrome are usually diagnosed either at birth or around the time they might be expected to go through puberty. If a baby girl has some of the signs of Turner syndrome, a doctor will usually order a special blood test called a karyotype. The test counts the number of chromosomes and can identify any that are abnormally shaped or have missing pieces. In some cases, there are no recognizable signs that a girl has the condition until she reaches the age at which she would normally go through puberty.
If the karyotype blood test reveals that a girl has Turner syndrome, her doctor may order additional tests to check for problems with the kidneys, heart, hearing, and other problems that are often associated with Turner syndrome.

Treating Turner Syndrome

Because Turner syndrome is a condition that is caused by a chromosomal abnormality, there’s no specific cure. However, scientists have developed a number of treatments that can help correct some of the problems associated with the condition such as growth problems and researchers are constantly looking into new forms of treatment.
Growth hormone treatment can improve growth and influence a girl’s final adult height. In fact, in many cases, the treatment can help many girls with Turner syndrome reach a final height in the average range, especially if treatment is started early enough in childhood.

Another treatment for Turner syndrome is estrogen replacement, which helps the girl develop the physical changes of puberty, including breast development and menstrual periods. This treatment is often started when a girl reaches about age 12 or 13.

And a technique called in vitro fertilization can make it possible for some women with Turner syndrome to become pregnant. A donor egg can be used to create an embryo, which is then put into the uterus (womb) of the woman with Turner syndrome. With proper supportive care, the woman can carry the pregnancy to term and deliver a baby through the normal birth process.

Living With Turner Syndrome

Although people with Turner syndrome may have certain learning difficulties, the majority are able to attend regular school and classes and are generally able to:

  • Write well
  • Learn well by hearing
  • Memorize information as well as others
  • Develop good language skills