Klinefelter Syndrome Case Study

Open, View, and/or
Download this Document

Total Length: 708 words ( 2 double-spaced pages)

Total Sources: 1+

Page 1 of 2

Klinefelter syndrome is a genetic condition where a male child is born with an extra X chromosome, so that his sex chromosomes are XXY rather than XY; some people with Klinefelter syndrome have more than two X chromosomes. Klinefelter syndrome is the result of random error and is not a heritable disease. While many people think of the X chromosome as solely a sex chromosome, it plays a significant role in bodily functioning, impacting brain development and growth in addition to sexual functioning. Mental retardation and phenotypic abnormalities are associated with Klinefelter syndrome and are "directly related to the number of supernumerary X chromosomes (Chen, 2013). Klinefelter syndrome is a "form of primary testicular failure, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland" (Chen, 2013). This results in an androgen deficiency that causes many of the symptoms associated with Klinefelter's syndrome. Other hormone levels are impacted, as well, with a typical patient with Klinefelter distributing low serum testosterone levels, and high luteinizing and FSH hormone levels (Chen, 2013).

The signs symptoms associated with Klinefelter's syndrome vary by age. In babies the symptoms include: weak muscles, slow motor development, speech delays, and docility.

Stuck Writing Your "Klinefelter Syndrome" Case Study?

View All Our Example Klinefelter Syndrome Case Study

Have A Custom Example Essay Written

In boys and teenagers the symptoms include: unusual height, different body proportions than most boys, delayed or absent puberty, small or firm testicles, small penis, enlarged breast tissue, low energy levels, shyness, learning problems, and weak bones. In men, additional signs and symptoms include: infertility, decreased facial and body hair, and a decreased sex drive (Mayo Clinic Staff, 2013).

Klinefelter syndrome is diagnosed in two ways. First, hormone levels are examined through blood and urine testing. If hormone levels are not in the normal range, then the doctor may order chromosome analysis. In chromosome/karyotype analysis, a blood sample is examined to determine the number of chromosomes. The presence of an additional X chromosome results in a Klinefelter syndrome diagnosis.

There is no cure for Klinefelter syndrome, but there are treatment options. Testosterone replacement, especially at the time of normal puberty, can allow a boy to undergo the normal changes associated with puberty. Enlarged breast tissue can….....

Show More ⇣

     Open the full completed essay and source list


OR

     Order a one-of-a-kind custom essay on this topic


sample essay writing service

Cite This Resource:

Latest APA Format (6th edition)

Copy Reference
"Klinefelter Syndrome" (2013, November 06) Retrieved July 9, 2025, from
https://www.aceyourpaper.com/essays/klinefelter-syndrome-126449

Latest MLA Format (8th edition)

Copy Reference
"Klinefelter Syndrome" 06 November 2013. Web.9 July. 2025. <
https://www.aceyourpaper.com/essays/klinefelter-syndrome-126449>

Latest Chicago Format (16th edition)

Copy Reference
"Klinefelter Syndrome", 06 November 2013, Accessed.9 July. 2025,
https://www.aceyourpaper.com/essays/klinefelter-syndrome-126449
   

Open, View, and/or
Download this Document
order custom essay example