Klinefelters Syndrome – Genetics&Birth Defects Example

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"Klinefelter’ s Syndrome" is a wonderful example of a paper on genetics and birth defects. Mainly, this is a genetic condition attributed to the existence of extra copies of X chromosomes.   Klinefelter’ s Syndrome mostly affects male individuals and it results in the occasion at birth a boy born has an extra X chromosome (Mehta& Paduch, 2012). Thus, this paper presents incidences symptoms, diagnostic tests, and a treatment plan for Klinefelter’ s Syndrome. Incidences             The syndrome is one of the most common genetic disorders that result from chromosomal abnormalities.   This genetic disorder evident in approximately 1 in every 500 or 800 males and in addition; approximately 3000 boys affected with Klinefelter’ s Syndrome are born in the USA each passing year (Forti et al, 2010).

Klinefelter’ s Syndrome contributes significantly to male sterility, as there is a close relation between infertility and Klinefelter’ s Syndrome (Forti et al, 2010).   In addition, nearly 3% of infertile male individuals have Klinefelter’ s Syndrome. The condition also displays no preference in relation to racial and ethnicity considerations as it affects all races and ethnic groups equally (Forti et al, 2010). Symptoms                       Individuals with Klinefelter’ s Syndrome display a variety of symptoms at different times of their lives and in different activities that they partake.

The symptoms associated with Klinefelter’ s Syndrome are categorized into language and learning symptoms, physical symptoms, and social and behavioural symptoms (Mehta& Paduch, 2012).                       Physical symptoms are associated with low testosterone levels in the body. During puberty, the need for testosterone is slightly higher because of the physical changes taking place in the body. Such persons will show various indications of Klinefelter’ s Syndrome such as the following: Existence of smaller testes and penis They have a decreased sexual interest Lower energy Condensed muscle tone. Development of breast They also have weaker bones; this puts them at a greater risk for bone fractures (Radicioni, et al, 2010) They have reduced sperm production Breast growth Reduced body and facial hair They will have wider hips and reduced shoulders (Mehta& Paduch, 2012)                       Adult male with Klinefelter’ s Syndrome have features like lower testosterone levels, this has the following effects: reduced facial hair, and reduced sexual interest and function (Mehta& Paduch, 2012).

During their early years when the need for testosterone is low individuals will show unusual features such as, slightly taller, slower in developing coordination, muscle strength, motor skills, and speed (Radicioni, et al, 2010).                       Significant language and learning symptoms that are associated with Klinefelter’ s Syndrome are  difficulties in using language to express one’ s needs and thoughts, reading difficulties, and difficulty in processing what they hear (Radicioni, et al, 2010).

In addition, they will display some symptoms related to social and behavioral aspects like the following; Being quieter The individuals are more anxious or restless They are physically inactive (Radicioni, et al, 2010) They are more obedient and  ready to follow directions Diagnostic tests                       Diagnosis for Klinefelter’ s Syndrome entails the examination of blood samples to determine the existence of additional X chromosomes through a test called Karyotypetest (Forti et al, 2010).

Diagnosis in an unborn baby boy occurs during antenatal screening. During that time, a sample obtained from the amniotic fluid around the baby in the womb goes through Karyotypetest to determine the existence of an additional X chromosome (Forti et al, 2010). Treatment plan                       The main treatment for Klinefelter’ s Syndrome involves using testosterone  to boost the low levels of the hormone in the body.

Testosterone can help correct various disorders attributed to Klinefelter’ s Syndrome (Forti et al, 2010). As a result, it can help increase strength and build a more muscular body, Increase facial and pubic hair, and improve one’ s mood and self-esteem.


Forti, G., Corona, G., Vignozzi, L., Krausz, C., & Maggi, M. (2010). Klinefelter’s syndrome: a clinical and therapeutically update. Sexual Development, 4(4-5), 249-258.

Mehta, A., & Paduch, D. A. (2012). Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. Fertility and sterility,98(2), 274-283.

Radicioni, A. F., De Marco, E., Gianfrilli, D., Granato, S., Gandini, L., Isidori, A. M.,& Lenzi, A. (2010). Strategies and advantages of early diagnosis in Klinefelter's syndrome. Molecular human reproduction, 16(6), 434-440.

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