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The following information was compiled by Klinefelter and Associates, Inc.
KLINEFELTER SYNDROME
According to one estimate, 1 in
350 children are born with sex chromosome variations,
although most will never be diagnosed. These variations occur at
conception. The
causes remain unknown.
Klinefelter Syndrome is a
genetic alteration occurring only in the male population. This
group
is identified by the presence of an extra chromosome,
"X", on the site of the chromosome
chain that determines gender. Klinefelter Syndrome is now
frequently called by it
signature alone, "47,XXY".
SYMPTOMS
Males with Klinefelter Syndrome
do not all have symptoms to the same degree. There is a
full spectrum of severity ranging from NO symptoms at all, to
mental and physical
problems which require ongoing care. When there is more than one
additional "X" on the
gender site, as in the case of "48,XXXY" or
"49,XXXXY, the symptoms may be intensified
Klinefelter Syndrome is not degenerative..
PHYSICAL: Most infants appear
physically normal at birth. There is a tendency toward
increased height after the fourth year. The onset of puberty is
generally late. There is
a marked tendency toward poor upper body strength. The growth of
the penis and
testes is decreased and OCCASIONALLY there is increased breast
development. The
normal sex drive is diminished and most are sterile.
PSYCHOLOGICAL: Young K.S. males
frequently experience a delay in language development
and have measurable problems with auditory processing. This means
that there are
difficulties in production of language (reading, writing and
speaking). However their
comprehension appears to be normal. You can expect to see
emotional problems
because of this frustrating combination. When a K.S. male does
not develop
at the same pace as his peer group, overwhelming feelings of
alienation are
common. This intensifies an already difficult puberty. Mood
swings can be extreme.
DIAGNOSES
This syndrome is very hard to
diagnose at an early age when intervention would be most
effective. The earliest possible time for diagnoses is before
birth, using amniocentesis
for a chromosome study. Because these pregnancies are usually
uneventful, there is
little reason to undergo this procedure. Most women who find out
they are carrying a
47,XXY male through amniocentesis were generally being tested for
another reason.
There is currently no general screening process for 47,XXY. The
next time this
might be diagnosed would be when the 47,XXY male should be
developing language
skills. A language delay, by itself, does not indicate an extra
chromosome. Even
coupled with an increase in height and passive behavior, it still
would be difficult to
diagnose 47,XXY if the physician was not looking for it. The next
common time for a
diagnoses is when puberty does not arrive on time. Physical
symptoms become
noticeable - lack of developed testes and/or increased breast
size. This is a particularly
difficult time for a 47,XXY male because they are seldom able to
talk about what is wrong
and often feel anxious. The most frequent time that the 47,XXY
male is diagnosed is
when his wife cannot get pregnant. A chromosome study is usually
run on the husband
because he does not produce any sperm. Most Klinefelter men are
sterile.
TREATMENT
Early discovery is the best.
Parents can then be prepared to deal with the physical, emotional
and educational aspects of this syndrome. Unfortunately, because
of the difficulty of
receiving an early diagnoses, most families find themselves
already in a position of
distress and despair when the diagnoses finally arrives. The
treatment depends on
the age. Before adolescence there is no medical treatment
required. There are
methods to help with speech and language problems and the
learning disabilities that
frequently appear. Most of these programs can begin during the
preschool years. When
a diagnoses is given during childhood, testosterone replacement
therapy is available.
Testosterone is a male hormone that is nut fully produced by
47,XXY males. Therapy is
usually started in the eleventh or twelfth year. The hormone is
generally given
through intra-muscular injections (shots). The amount is decided
by each individual
endocrinologist ( a doctor who specializes in the treatment of
hormone imbalances.
When the diagnoses is given as an older teenager or adult, the
above testosterone
replacement therapy is still highly recommended, however the
results may not be as
beneficial. Breast reduction surgery is available for those
individuals who have excess
breast tissue (although few ever develop to the point of
embarrassment). There are also
testes prosthesis that have been psychologically beneficial for
many.
SUMMARY
Today the general prognoses for
males with additional "X" chromosomes is excellent.
This is
due, in part, to the growing field of genetic specialists,
endocrinologists and
psychologists who are involved in the integrated treatment of the
whole 47,XXY male.
K.S. & Associates is
reaching out with a national and regional network of support
systems in
addition to the publication of a newsletter. We have successfully
managed to link
thousands of families in the United States and Canada through a
telephone and address
database while making every effort to ensure individual's and
families desire
for privacy. We are striving for earlier diagnoses of Klinefelter
Syndrome in male
children with an outreach program to the medical community by
providing patient pamphlets.
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