Turner syndrome is a chromosomal condition involving a persons sex chromosomes. Turner syndrome results when one of the X chromosomes (sex chromosomes) is missing or partially missing following conception.
In mosaic Turner syndrome, an X chromosome is missing in some cells in people assigned female at birth.
Keep reading to learn more about what causes mosaic Turner syndrome, what the symptoms might be, and what treatments are available.
Chromosomes are what carry genetic information (also called DNA) from each cell throughout the human body. Each person is born with 23 pairs of chromosomes 46 total including one pair of sex chromosomes, X and Y.
Turner syndrome affects people who were assigned female at birth. While people assigned female at birth typically have two X chromosomes (XX), people with Turner syndrome have just one X chromosome.
Because so much genetic information is missing at such an early stage of development, Turner syndrome can cause a variety of medical and developmental concerns, including failure of the ovaries to develop, heart defects, and short height.
There are two main types of Turner syndrome:
In general, symptoms for people with mosaic Turner syndrome tend to be less severe than symptoms for people with complete Turner syndrome. This is because the number of cells that are affected by the missing or deficient X chromosome is fewer with mosaicism.
Some cells contain the usual two XX chromosomes and, therefore, do not contribute to health issues.
Symptoms may vary greatly between people with mosaic Turner syndrome. Some people may not even realize they have this condition until puberty or later in life.
Symptoms may include:
In addition to these symptoms, a person with mosaic Turner syndrome may have certain physical characteristics, including:
Again, these symptoms may be milder than people experience with complete Turner syndrome. A 2018 study revealed that people with the mosaic (partial) form tended to be closer to average height with fewer reproductive and heart issues.
Turner syndrome is rare. It affects roughly 1 in every 2,000 to 2,500 female births across the globe.
The mosaic form of this condition is caused by a partial loss of the second X chromosome. The one-chromosome form is caused by a complete loss of the second X chromosome.
A 2013 study found that between 30% and 40% of people with Turner syndrome have the mosaic form.
What causes the loss of this second sex chromosome isnt fully understood yet. Researchers believe it may happen at random during reproduction. It could occur soon after the sperm meets the egg or early in fetal development.
Turner syndrome does not appear to be genetically inherited. This means it does not run in families.
Diagnosis is often made after a baby is born, in either childhood or adolescence. The physical features of infants with Turner syndrome may be recognizable at birth or emerge during infancy.
If your child shows signs after birth, their pediatrician may order tests, such as:
In some cases, a doctor may diagnose Turner syndrome before a baby is born through prenatal genetic testing. In particular, karyotyping may be performed by sampling a mothers blood, bone marrow, or other tissue that can identify any chromosomal abnormalities in the fetus.
Ultrasound may also help doctors diagnose Turner syndrome during pregnancy. Some babies may have lymphedema (swelling) or issues with the kidneys or the heart that are visible on prenatal ultrasounds.
Theres no cure for Turner syndrome. Instead, treatment aims to address whatever signs or symptoms a person with Turner syndrome is experiencing. Treatment varies by the person and their needs.
A 2018 study involving people with mosaic Turner syndrome found that treatment may not be necessary particularly in cases when the syndrome is found by chance.
This means some people may have mosaic Turner syndrome that doesnt cause symptoms or health issues, so theres no need for any treatment.
Otherwise, treatment options may include:
Symptoms of mosaic Turner syndrome tend to be milder than those of complete Turner syndrome. As a result, people with this condition may lead relatively healthy lives.
Early diagnosis and treatment can help with growth and development issues before and during puberty. That said, not all people with mosaic Turner syndrome will have delays in their development. Or if they do, these issues may only be minor.
Most people with mosaic Turner have either reduced fertility or infertility. In vitro fertilization may help address fertility issues.
However, people with mosaic Turner syndrome who do become pregnant are at risk of blood pressurerelated complications, which can lead to premature birth or fetal growth restriction.
Pregnancy in people with mosaic Turner syndrome is also associated with an increased risk of maternal complications, including heart conditions like aortic dissection and aortic rupture.
Researchers are exploring the potential link between Turner syndrome and autism. In one British study from 2018, the rate of autism in people with Turner syndrome was 21% compared with the U.K. rate in females of 0.3%.
Mosaic Turner syndrome is a developmental abnormality involving the sex chromosomes. Turner syndrome results when one of the X chromosomes (sex chromosomes) is missing or partially missing following conception.
Treatment can help with a persons specific health issues but may not be necessary if symptoms are mild.
People with this condition may have a range of health and development issues, but they generally may lead healthy lives.
See the original post here:
Mosaic Turner Syndrome: What It Is and How It's Treated - Healthline
Recommendation and review posted by G. Smith
