More about Clinic this week

So I saw a patient this week that has Turner Syndrome. If you don't know what that means, I will give a brief description - The average person has 2 gender specifying chromosomes (XX or XY). Sometimes cell division doesn't happen quite the way it should, and you can have a child with XXY or XYY or, in the case of Turner Syndrome, X-. This means that there is a chromosome missing and the child is born as a female, but there are often complications as well. Like a Down Syndrome child, children with Turner Syndrome can have very distinct features: short stature, low-set ears, and a short neck, among other features.

This patient was also mosaic which is interesting from a genetic stand point, and I just learned about it this past spring in my Genetics class. Basically it means that some of your cells test with one set of DNA, and your other cells test with an altered set of DNA.

http://www.turnersyndrome.org/index.php?option=com_content&task=view&id=27&Itemid=123

Because of the short stature, these kinds of cases are often seen in the Endocrine clinic. As these patients grow up, they often have trouble with puberty hormones and will continue seeing an Endocrinologist to be monitored for those hormones as well.

Genetics. We all have our own set of DNA that has made us most of who we are today. The more I learn the more I am truly AMAZED that any of us live past the age of 1...day old. The fact that any of us developed normally and function every day, is truly an act of God. We can see His grace on our lives every day. The fact that our cells continually divide normally and after all our cells have been replaced (this happens regularly!), we still look like we did before. God made our bodies to regenerate themselves without changing our physical appearance...unless you want to count wrinkles :-)

I am also amazed by how basic treatments can off-set major cellular defects in our bodies. For example, Type I Diabetes. These children have little to no insulin production in their bodies and a simple treatment of insulin shots helps them live normal lives. I know the day to day monitoring probably seems complicated and frustrating for those people, but it keeps them ALIVE. Modern medicine can do amazing things.