What is Klinefelters Syndrome?

Klinefelters syndrome is a genetic syndrome caused by a male having two X chromosomes, also commonly called XXY or Double X Syndrome. Usually a female has two X chromosomes (XX) and a male has one X and one Y (XY). Having an extra X chromosome does not mean that someone who has Klinefelters is not male because they still have that  chromosome.

Symptoms of Klinefelters include;  

1. Learning to crawl, sit up, walk and talk later then others - This like downs syndrome is caused by low muscle tone and doesn’t mean that boys who have Klinefelters will never be able to but just may be a little slower.
2. Quiet and passive personality – Not necessarily true and anyone who has met Harry will completely agree with that!!! However boys with Klinefelters have been known to be quieter and more passive then other boys their age, although this can just be shyness!
3. Learning difficulties – Issues with reading, writing and spelling. Also boys with Klinefelters are also commonly diagnosed with dyslexia
4.  Height – How jealous I am of this!! Me with my tiny 5”1 height! Likelihood is though Harry will be very tall!
5.  Reduced facial and body hair – May be less but may also just develop later.
6. Wide hips and in severe cases breasts develop.
7.  Low sex drive
8.  Infertility
9. Small penis and testicles

While some males who have Klinefelters will experience all of these symptoms some will have few or none. There is no guarantee and some males go undiagnosed until issues with fertility or other issues.

Health issues are also common with Klinefelters as the risk is slightly higher especially for certain issues such as;

1. Type 2 diabetes
2.  Weak and fragile bones
3. Cardiovascular disease
4.  Blood clots
5.  Under active thyroid
6.  Anxiety
7. Depression
8. Male breast cancer

Again none of these are guaranteed.

Klinefelters is incurable, however it is manageable with things such as testosterone therapy (usually given vial injections) to help the body with its lack of testosterone physio therapy to help with muscle tone development and breast reduction.

Not much more is known about Klinefelters, and Harry having both Klinefelters and Downs is incredibly rare (we worked it out as chances of having a child with both at my age being about 1 in 4.5 million) and so not much is known how it will effect Harry is the future and so we are just taking  everything as it comes.