You learn that your daughter has Turner syndrome, and the news seems to come out of nowhere. This condition — which affects about one in every 2,500 female babies born each year around the world — isn’t one that’s inherited; rather, it’s a random genetic disorder.
To help with your abrupt initiation into this pediatric growth disease, board-certified endocrinologist and internal medicine specialist Dr. Sean P. Nikravan and our team take a closer look at Turner syndrome (TS) in this month’s blog post.
Almost every cell in the human body contains 23 pairs of chromosomes. The makeup of this genome depends upon gender — males have 23 pairs of XY chromosomes while females have 23 pairs of XX chromosomes.
With Turner syndrome, one of the X chromosomes is either partially or entirely missing in the genome of a female. While it’s considered a genetic condition, this isn’t referring to heredity, but directly to the genes. In most cases, the chromosomal change that leads to Turner syndrome is entirely random.
For example, 45% of females with TS have monosomy X, which means that each cell only has one X chromosome. This typically occurs because either the egg or the sperm formed without the chromosome.
Another 30% of cases of TS are mosaic Turner syndrome, in which some cells have two X chromosomes while others have only one. This usually occurs during early cell division.
One of the most noticeable effects that Turner syndrome can have on a female involves their growth. Most females with TS are slow to grow and typically only reach a height of about 4 feet, 8 inches.
In addition to smaller stature, girls with TS often don’t experience sexual development, meaning no breasts, no menstrual cycles, and unusually small ovaries. As a result, women with TS are usually unable to have children. Aside from growth and sexual development, TS can lead to other health issues that we can discuss with you.
If your daughter is diagnosed with TS, having a pediatric endocrinologist on your health team is important. With early hormone therapies, primarily human growth hormones, we can help your daughter reach a more normal height.
We can also turn to estrogen and progestin therapies to help with your daughter’s sexual development and menstrual cycles.
The key to the success of these hormonal treatments is to introduce them at the right times so your daughter’s development can stay on track.
Ultimately, finding the best treatment options for TS is complex and requires an experienced team. Such a team can be found here at our practice, and we work tirelessly to find the best approach for each patient who comes to us with this uncommon disorder.
To learn more about TS and your treatment options, please contact our office in Newport Beach, California, to set up an appointment. You can also request an appointment through this website.