|
1
|
- Dr. Paul E. Belchetz MA MD MSc FRCP
- Consultant Endocrinologist
- The General Infirmary at Leeds
|
|
2
|
- Klinefelter’s Syndrome is usually
caused by having one extra X chromosome in every cell
|
|
3
|
- Studies of large series of boys shortly after birth shows this occurs in
about 1 in 600
- This is 3 to 4 times as many as there are known people with
Klinefelter’s Syndrome
|
|
4
|
- Why are so few diagnosed?
- This is probably partly because of ignorance – doctors failing to think
of the condition when there are good reasons to suspect it, but some men
with Klinefelter’s Syndrome look very normal – there is a huge range of
variation in appearance despite the same chromosome patterns.
|
|
5
|
- The extra X chromosome affects the testicles in different ways –
- Failure of sperm production generally develops causing infertility and
is associated with small size of the testicles. Research is active into when this
occurs and if anything can be done but currently this is not generally
possible.
|
|
6
|
|
|
7
|
- Testosterone production is necessary at different stages of development.
Some of its action is only seen after it is converted into a powerful
hormone dihydrotestosterone
|
|
8
|
- The production of testosterone in men with Klinefelter’s Syndrome is
sufficient in fetal life and childhood for normal male development,
physically and mentally upto puberty.
Subsequently testosterone production falls at different rates in
different individuals.
|
|
9
|
|
|
10
|
|
|
11
|
|
|
12
|
|
|
13
|
|
|
14
|
|
|
15
|
|
|
16
|
- Good steady blood levels for 4-6 months
- Minor op, tiny scar, may extrude or get infected
- Not universally available
|
|
17
|
|
|
18
|
|