Turner Syndrome
Everyone has heard of Down syndrome, which is a chromosomal disorder that results from an extra copy of chromosome 21, instead of 2 copies of chromosome 21 individuals with Down syndrome have 3 copies?
This syndrome causes intellectual disabilities, unique facial/body characteristics, and a high potential to develop medical conditions such as heart problems.
What most people don’t know or have ever heard of is all the other chromosomal disorders.
Unless you have personal experience with these disorders, most people are oblivious.
Turner Syndrome is a chromosomal disorder that affects about 1 in 2500 girls worldwide.
This syndrome occurs when one of the two X chromosomes is absent, partially absent, or altered.
This disorder only affects females, since the chromosomal abnormality happens in one of the X chromosomes. This disorder usually never affects intellectual capabilities, it mainly affects the reproductive system along with some physical abnormalities such as height and lymphedema.
This syndrome is also related to health complications such as abnormal aortas of the heart, heart defects, kidney problems, arthritis, diabetes, cataracts, and obesity. The most common features of this syndrome are short height and ovarian failure.
Originally the ovaries in females with this syndrome develop normally but during development, the egg cells die and degenerate all ovarian tissues before birth. On rare occasions, some women with Turner syndrome will maintain regular ovarian function up to their early adulthood but it is almost impossible for them to conceive, as these women are almost always infertile.
Almost half of the females affected by Turner syndrome are born with or develop heart defects such as a narrow large artery or the valve that connects the heart to the aorta.
Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem.
These girls have to be closely monitored for normal growth and can start growth hormone injections as soon as it is needed. They won’t experience puberty meaning they will not menstruate, or grow breast. At the age when puberty begins, estrogen therapy is started to help develop women-like features and start menstruating to maintain a healthy womb.
With technology and science advancing every day, it is now an option for turner syndrome women to become pregnant. While a small number of women with Turner syndrome will be able to get pregnant naturally, the vast majority will be infertile. Assisted conception using various forms of IVF may be successful. Regular heart checks before and during pregnancy are essential, as pregnancy increases the strain on the heart and blood vessels.
Turner syndrome girls overall can live a healthy life with the help of treatment.
For more information on IVF, click here.
