Klinefelter Syndrome - Essay Example

"Klinefelter Syndrome" is an outstanding example of a paper on genetics and birth defects.
Klinefelter syndrome is a chromosomal condition in which a male has an additional X chromosome. It occurs when chromosomes fail to disintegrate in either the male or the female parent to the victim.

The condition is a significant health problem because of its incidence rate, occurring in between one in every 500 males (Center for Genetics Education, 2013) and one every 660 males (University of Utah, 2015). Incidence rate, however, varies across regions and is lower in Australia, reported at one in every population of 1000 people (Center for Genetics Education, 2013). A number of cells that have the extra X chromosome determine the severity of the complication’s symptoms. Some cases also report more than two X chromosomes and this increases the severity of symptoms, though cases of more than two X chromosomes are not common. The condition cannot be attributed to any cause (Center for Genetics Education, 2013).    

Symptoms and signs

Klinefelter syndrome has many symptoms that co-occur, but whose significance may vary across patients. Individuals with Klinefelter syndrome have about 10 to 15 lower intelligence quotient points that their peer. Affected male children also tend to be passive, unlike their male peer. Poor development is another symptom of the complication and includes delayed development of emotional, motor, and language competencies. This is often evident in childhood but may persist as the child advances into adulthood. Growth is however faster in the patients, some of whom may have breasts while their expected male changes at puberty may be suppressed. Those who suffer from the syndrome are infertile, though with normal physical sex organs (Center for Genetics Education, 2013). Their testicles may be underdeveloped and therefore unable to produce sperms. Feminine characteristics such as excessive fats in the body, instead of muscles, longer limbs, and narrow shoulders are other symptoms of the condition. Other health complications such as “osteoporosis, varicose veins, and type II diabetes, and heart valve defects” are other symptoms (University of Utah, 2015, p. 1). An empirical study among Korean men confirms the validity of sexual organs and cognitive underdevelopment as some of the condition’s symptoms (Bak, Byun, Lee, Park, Lee, K., and Shim, 2012).   

Diagnostic tests

Karyotype test, an examination of chromosomes in blood, is one of the diagnostic tests for Klinefelter Syndrome and identifies chromosomes in blood cells. Prenatal diagnosis of the condition is also possible through the analysis of cells in the amniotic fluid (University of Utah, 2015).  

An appropriate treatment plan

There is no treatment for Klinefelter syndrome but measures can control the development of feminine characteristics in a boy. Administration of testosterone hormone from the age of 12 until a person reaches adulthood is the first step to the management of the condition through normalization of body changes at puberty. This does not, however, solve infertility and cognitive problems and counselling program for the patients and people who deal with the patients, such as their parents and teachers, is a secondary treatment plan that will help the patients to develop self-esteem despite their complication.

Klinefelter syndrome is a chromosomal complication in which a male has an additional X chromosome. It is a significant condition, based on incidence rate, which varies across regions. Infertility, low intelligence quotient, feminine body characteristics some terminal illnesses are its symptoms. Screening is the diagnostic test and administration of testosterone and counselling are major components of a management plan, though no treatment exists.