Hello. In this HealthSketch we want to talk to you about Klinefelter Syndrome
a genetic condition that affects boys. It is named after Dr Harry Kleinfelter who first described the
condition in 1942. Around the world, roughly 1 in every 600 boys that are born will have
Klinefelter's Syndrome why does Klinefelter's Syndrome occur? Unlike other genetic conditions,
it is not directly inherited from parents, although older mothers or fathers may be at
slightly increased risk of having an affected son. The condition happens randomly when the genes are
first formed. Our genes are like a code which determine how we look and how our body works.
All of these genes are wrapped up in 46 chromosomes which are found in every cell
of the body. Of these 46 chromosomes, one pair is different between boys and girls,
the sex chromosomes X and Y. Girls have two X chromosomes while boys have an X and Y chromosome.
However, in Klinefelter's Syndrome there is an extra copy or copies of the X chromosome. Most
commonly, this means that instead of their chromosomes being 46XY there are 47XXY.
The extra X chromosome means that their bodies develop slightly differently.
The testes do not function properly and produce less of the hormone testosterone.
The syndrome is very variable, and some boys have very few obvious symptoms.
In fact, many people with Klinefelter Syndrome will go through life without ever being diagnosed.
However the lower levels of testosterone and the extra chromosome can lead to some of the following
features: Reduced fertility or infertility. Being taller than expected and with slight
changes to body shape. Lower muscle tone and strength. Less facial and body hair. Sometimes,
more breast tissue, called gynecomastia. Low mood and anxiety. Finding social situations difficult.
Low energy levels. Difficulties in some thinking skills used in daily life,
such as planning, focusing attention, and juggling tasks. Changes to behavior and learning such
as language development difficulties, although intelligence is usually unaffected. Apart from
these features men with Klinefelter Syndrome also have a slightly increased risk of developing other
long-term health problems, including: weak bones, type 2 Diabetes, heart disease and blood clots,
autoimmune disorders, dental problems, increased risk of male breast cancer.
These may seem like a long list, but the condition is very variable and most will experience few
problems. However, if you suspect Klinefelter's Syndrome then it is worth seeing a doctor to get
a formal diagnosis, as treatment and support can reduce the chance of problems developing.
Diagnosis is confirmed by a blood test which checks for the extra chromosome through a genetic
test for adults. Other tests can also be helpful, such as checking blood testosterone levels
and fertility tests such as sperm count. While there is no cure for Klinefelter Syndrome
testosterone replacement therapy is effective for treating some of the symptoms.
This is usually not required until after puberty and it can be provided in various ways,
such as gels tablets or injections. Other possible interventions include speech therapy,
physiotherapy and occupational therapy, educational and behavioral support at school,
and psychological support. There are now fertility treatments which may help some to father children.
Increasingly multi-disciplinary clinics are bringing these wide-ranging services together.
It is important to remember that most people with Klinefelter Syndrome will
lead normal and healthy lives. However it can be upsetting and confusing to first learn about
a new condition. Patient support groups are available to connect with other patients
and families who may have gone through similar experiences. In this HealthSketch,
we've talked about Klinefelter's Syndrome which is caused by an extra X chromosome in boys
and leads to low testosterone levels. We describe the common features of the condition, how it
is tested for, and the main forms of treatment including testosterone replacement. We hope this
health sketch has been helpful for you and those around you. HealthSketch, health for all to see.