Danger level: Medium
What is it?
Turner syndrome is a condition in which one of the chromosomes is deleted, causing physical abnormalities, problems with fertility and other health problems.
Who gets it?
Turner syndrome, and you’ll understand why soon, happens only in girls. It happens in pregnancy, and girls affected by it are born with the condition. It remains throughout life.
Turner syndrome happens in 1 out of 2000 new-born baby girls.
What causes it?
We all have DNA molecules in our body, which contain the instructions for the body for everything it does – from development as fetuses, to the way we look and to diseases we may have.
The DNA is arranged in chromosomes – these are structures that pack the DNA molecules tightly. We have 23 pairs of chromosomes in our bodies:
- 22 “regular” chromosome pairs – Since they’re paired they give a total of 44 chromosomes
- A pair of sex chromosomes – In men these are called X and Y, and in women these are called X and X.
This gives a total of 46 chromosomes.
Pairs of chromosomes. See anything missing?
In Turner syndrome, one of the X chromosomes in the pair are missing, leaving only one, as seen in the picture above.
How does it feel?
There are a few things that characterize the syndrome:
- Short stature – These girls/women are short
- Swelling of the hands and feet
- Broad chest, with nipples that are widely spaced from each other
- Small Breasts
- Low hairline
- Low ears
- Infertility – They have problems with getting pregnant, since their ovaries don’t function. This also goes with no monthly periods.
- Obesity
- Small fingernails
- “Webbed Neck” – This is a skin fold that runs along the sides of the neck down to the shoulders
These women may have other health problems as well:
- Problems with their aorta
- Breasts that don’t develop right
- Kidney problems
- Eye problems – Such as cataracts
- More ear infections
Other problems may accompany the condition.
Here’s a video about the personal story of someone affected by the condition:
How is it treated?
The condition is genetic, so there is no “cure” for it. Some measures can be taken to treat the various problems here:
- Growth Hormones – In order for the child to grow taller.
- Estrogen – Since the ovaries here don’t produce it.
- Treatment of the specific problems mentioned above by the appropriate doctor.
What happens after treatment?
Overall, people with Turner’s can live a fairly normal life. Most of them will be shorter than average, even with growth hormone therapy.
Even though they are infertile, pregnancy is still possible with donor eggs.
The bottom line: How do I avoid it?
Since the condition is genetic, there is no known way to prevent it.
What next?
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June 22nd, 2009 at 9:07 am
[...] Turner Syndrome – The Missing X [...]
December 16th, 2009 at 11:25 am
1 out of 2500 girls sre effected not 1 out of 2000
December 16th, 2009 at 7:25 pm
1 out of 2500 girls sre effected not 1 out of 2000