Klinefelter Essays - Biology Of Gender, Cytogenetics, Syndromes

Klinefelter 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).