Klinefelter’s
Syndrome
Klinefelter’s Syndrome (referred to as KS) is a
condition, which only occurs in males. It is a chromosomal
genetic abnormality, which affects males found in all races, ethnic
groups, and socioeconomic classes. In KS, boys have two X
chromosomes constituting the makeup of the chromosome arrangement of
47,XXY rather than the usual one Y chromosome, which would be 46,
XY. It is estimated that 1:500 to 1:1,000 ratio males have this
genetic abnormality, which realistically covers 0.1 percent of
incidence.
My interest in this syndrome is personal. I
had a pregnancy in 1983, that was diagnosed as KS. Not only
was there was little information about the disease, and the only
information that the doctor handed me was a small pamphlet (5 x 7) that
was maybe 10 pages, and all of the information included in it, was
negative. I interpreted it parallel to Downs Syndrome.
There were no support groups and my husband was totally against having
the child. As a result, the pregnancy, into my 4th month, was
terminated. I had to endure an actual labor process. It was
the hardest and most regretful part of my life.
KS is described as an “accident of nature” in which
an egg or sperm cell contains 24 instead of the usual 23
chromosomes. When fertilization takes place, the result is a
total of 47 chromosomes in the fertilized egg, instead of the normal
46. There are also multiple aneuploidies such as 48,XXXY; 48,XXYY; and
49,XXXXY but it is somewhat rare, being the more common condition
47,XXY. This is the most common genetic abnormality known.
There is no known cause of the 47,XXY, but it has
been demonstrated that it can originate in either the mothers’ egg or
the father’s sperm. There appears to be a slight association with
increased maternal age, but is less than found. Parents should be
aware that there is nothing they did or did not do to cause KS in their
child. Unless the mother has an amniocentesis, males will neither
look nor behave in a manner, which would prompt testing for chromosome
abnormality.
There are a wide variety of symptoms; however, these
symptoms are not visual at birth. When the child reaches 6-12
months, their language acquisition is usually delayed along with
depressed motor development. These children seem to share some
personality traits; they seem to be shy, passive, immature, and
dependent. Intelligence scores usually fall within normal limits,
but are typically lower than their siblings, and tend to reflect lower
verbal than non verbal (performance) skills. XXY boys often are
more physically active than other males. If this is channeled
into play, sports or other physical activities, this fact is in no way
negative. They develop normally in childhood and do not
demonstrate an increased risk of diseases in childhood or
adulthood. Parents and family members should be made aware that
KS, 47,XXY is not necessarily associated with serious intellectual or
emotional problems in childhood.
Since the Y-chromosome is responsible for the
formation of the testes and masculine development, the presence of two
X-chromosomes causes abnormal development. Puberty develops at
the usual time and results in a normal size penis, but the testes are
small. Body hair may be either female or male in distribution,
but is usually scant. They tend to be somewhat taller (example: 6
½’ as opposed to 5’10”), and exhibit less muscular development
than other males, which causes males to be somewhat less coordinated
than their peers. They often have slight fat distribution of a
female pattern with rounded hips being the most notable. Some
breast development occurs in adulthood, due to the increased
sensitivity to estrogen, rather than the lack of testosterone.
This is not a predisposition to homosexuality or any other sexual
deviation that is found in normal 46,XY males. KS males are like
the rest of the population. No two are the same. Some are clever,
some are not. Some are musical, some are not. Many are more sensitive
and perceptive, some are not. A KS male may develop a pear-shaped
body. The most significant problem is infertility due to the lack
of sperm production (extra X is the female chromosome).
Testosterone therapy initiated on the onset of
puberty (around age 12) should promote the development of secondary
male sexual characteristics and testicular growth, increase muscular
development, and a more masculine appearance. Where insufficient
testosterone is present, bone density may be reduced when the body
fails to lay down sufficient calcium. This results in an
increased risk to various bone diseases such as osteoporosis. For this
reason all KS males should request bone-density scans at least every
two years.
Appropriate timing of testosterone therapy is
important to have a significant positive impact on the behavior and
learning problems experienced by these boys, especially with regard to
self-esteem and sexual problems.
Infertility is probably the most difficult aspect of
the condition to address. Counseling should emphasize the
distinction between sterility and sexual impotence and should be given
in the context of the incidence of infertility in the normal population
(about 10% of all couples experience infertility). Of course,
there are alternate reproductive options such as adoption or artificial
insemination by donor, and should be addressed.
When searching for information regarding KS, I came
across a gentleman with KS. He had a remarkable story of his
life. He was not diagnosed until he was an adult at the age of
25. I was simply dumbfounded about the research on this
syndrome. I had not expected so much information. I had
never looked up any information, had pretty much blocked it out of my
life, but for some reason this was the first thought when this project
came up. I learned that any disability should not succumb to
immediate fear. That fear should be used as a positive. You
should learn as much as you can about something that comes across in
your life. Fear should not dominate a decision in a negative
manner. I feel that people with disabilities are not at all a
disabled person, but a person that is “able” and functions with
strength, willpower and faith.
With respect to my nursing practice, I would suggest
that any possibility of a couple facing a disability of a child should
researched information on the disability. They should seek
support groups that can offer not only information regarding
disabilities, but to seek all avenues during this process to learn
about the disability. There are many education recourses out
there to turn to, such as support groups, information availability on
the internet, health care availability, and education (tutoring if
needed). GP & Endocrinologist should determine the levels
since some KS males can make their own testosterone to some
extent. Finding your proper care begins with identifying
the health care professionals who will work with you toward that goal.
These patients will need to see an endocrinologist routinely.
This is an effort in treating the endocrine (hormone producing) glands.
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Last updated September 2, 2005