Klinesfelters syndrome is a genetic endocrine disorder that affects about one in
five hundred to one in one thousand live born males. It is the most common
chromosomal variation found among humans(Klinefelter’s Syndrome &
Associates). Klinefelter’s Syndrome is characterized by a lack of normal
sexual development, infertility, and psychological adjustment problems (Wyndbrant,
Ludman 317). In this chromosomal variation an extra “X” chromosome is
present in the sex chromosome, the twenty-third chromosome. Klinefelter’s
Syndrome is also know as “XXY Syndrome.” Klinefelter’s Syndrome was named
after H.F. Klinefelter, who studied these patients at Harvard. Klinefelter noted
similar characteristics prevalent among the men and boys he studied. He noted
that all patients were sterile. They had normal sexual function, yet they could
not produce sperm to father children (Wynbrant, Ludman 318). Other
characteristics included abnormal breast development, incomplete masculine
build, and social and/or school learning difficulties (Murken 14).
Klinefelter’s Syndrome may remain unnoticed until puberty. At this time,
incomplete masculinization or development of female characteristics (enlarged
breats) brings them to medical attention. During puberty breast tissue among
those afflicted develops and continues to grow, often leading to surgical
removal of breast tissue (Klinefelter Syndrome & Associates). Most afflicted
individuals tend to be tall, though not particulary atheletic or coordinated.
Also, there is an increased risk of speech or language problems which can
contribute to social and school learning problems (Murken 19). The psychological
impact of Klinefelter’s Sydrome is quite fascinating. Individuals may have
less confidence in their maleness. They may appear more immature, shy, and
dependent than other boys their age. Also, the may seem more passive and
apathetic, lack intiative, and have fragile self-esteem (Wynbrant, Ludman 316).
These symptoms appear to be caused by the hormonal imbalance. Klinefelters
patients exhibit other similar psychological characteristics, such as, a
preference for quiet games, hand tremors, concentration difficulty, frustration
based outbursts, as well as, a lack of physical endurance (Klinefelters Syndrome
& Associates). Klinefelter’s Syndrome affectx the function of the testes
and their ability to produce testosterone. Thus, it appears that the
characteristics prevalent in Klinefelter’s Syndrome are hormonal related. The
extra chromosome does not cause Klinefelter’s Sydrome, a lack of testosterone
does. Early testosterone level monitoring is helpful. This hormonal imbalance is
treated with depotestosterone, a synthetic form of testosterone. It is
administered once a month. The results of the treatment can be seen in the
progression of physical and sexual development, including pubic hair, increase
in penis size, beard growth, deepening of voice, and an increase in muscle build
and strength. Also, many of the psychological characteristics appear to be
benefitted by the testosterone therapy (Klinefelters Syndrome & Associates).
Benefits of testosterone therapy include a clarity of thought, more energy and a
higher degree of endurance. Also, testosterone therapy appears to control hand
tremors, give the individual greater self esteem, as well as, an easier time in
school and work settings (Murken 35). Even with the testosterone therapy,
Klinefelters patients remain infertile (Klinefelters Syndrome and Associates).