Friday, January 21, 2011

What Is Turner's Syndrome?



The easiest way to explain what Turner Syndrome is, is to start with the fact that most men and women have 46 chromosomes which are arranged in pairs.  The 23rd pair is the sex chromosome. For most men this pair consists of and X and a Y (XY) chromosome. For women, it is a pair of X's (XX). In the case of someone with Turner Syndrome there is either a missing (XO) or damaged X within the pair. This means that all individuals with Turner Syndrome are female. One of the major characteristics of Turner Syndrome is short stature. The average height for someone with the syndrome is approximately 4'8". Another major characteristic is lack of secondary sexual characteristics and infertility. Without treatment, almost all women with Turner Syndrome will not go through puberty.

1. Caroline has full Turner's.  She is missing an X in all of her cells.  She is considered to be (XO).

2. Since Caroline has full Turner's she will not be able to have children naturally.  She may be able to have  children through IVF with donor eggs.  

3. Caroline will most likely have to have growth hormone shots sometime in the next few years.  These shots will continue for many years.

4. Once she decides she want to start puberty, we have to start a different round of medicine (not shots) but then have to stop the growth hormones.  So, she has to decide if she is okay with her height at that point as both types of hormones can't be given at the same time.

5.  Her only learning disability that she may encounter is spatial issues.  She may not be able to grasp the concept of 3d objects as quickly.

6.  There are a few studies that I have read that say girls with Turner's Syndrome have above average intelligence.

7. Unless I pointed it out, you would never know that she had Turner's and that is why it is usually not diagnosed until a girl goes through puberty.  

Just a few things I wanted to journal.

1 comment:

  1. I had a student last year who had Turner's. She was an amazing student and a fantastic artist... and she was super sweet too. She's now taking advanced art and lots of AP classes. I know Caroline is going to have a fantastic life. She is a miracle girl.

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