Medical & Health // Klinefelter Syndrome (KS)
Introduction
(I)Klinefelter syndrome is a genetic anomaly that affects the chromosomal integrity in males. The disease is also known as XXY or Chromosome 47 anomaly, which is responsible for causing sterility in males. This means that males suffering from this genetic anomaly will never have the chance to reproduce together with their female partner. Patients suffering from this condition may not seem to observe that they have it until that they are diagnosed correctly by the attending physician. This condition is regarded as non-communicable due to the nature and the prevalence rate of the disease. However, if the person suffering from this condition will finally discover that they have it, depression is a complication because being unable to bear a child is a distressing situation especially that they want to start a new family as mentioned by Matlach, et al., (2012).
(II) With the nature of Klinefelter Syndrome, this condition is regarded as idiopathic because there are still numerous medical researches to determine the nature of the disease. As for the incidence rate, there is 1 in between 500 and 600 males who suffer from this condition. The prevalence rate is higher for mentally challenged males than the average general male population with over between 5 and 20%. Klinefelter is usually prevalent in western countries due to the advanced medical practice. Overall, whites have the highest prevalence rate with 1 in 600, blacks comprises in 1 over 800, while Asians and Hispanics accounts for 1 in 1000 prevalence rate. When males are diagnosed in this condition, they have an extra X chromosome, totaling to 47. The normal number of chromosome for males is 46. The identification of this particular disorder was discovered in the 1940s when there were males who were complaining of being unable to fertilize their partner every time that they engage in sexual intercourse.
(III) Klinefelter Syndrome is a genetic disorder affecting males. The genetic alteration occurs when there is an additional X chromosome in the genes of patients particularly the male population in the community. The normal gene of a male patient is XY, but when they are affected by the Klinefelter Syndrome, it appears XXY. Klinefelter becomes more severe for the affected males if there are two or more X chromosomes or more than 47 chromosomes appear in affected patients. With the genetic composition of males affected by this situation, their hormones are compromised in this case. Since the genes are affected, the fluids and electrolytes of the patient with a chromosomal deficiency are also affected because there are numerous organs and systems that produce abnormal levels of hormone. When chromosomes produce inadequate or overproduction of different proteins, this affects the circulation of blood products as well as other protein synthesis that might disrupt their condition according to Cover (2012).
As for the clinical manifestation, the patient’s reproductive system is altered. This usually observed upon puberty, in which the production of testosterone, semen, and sperm is altered that leads to sterility. There is an abnormal growth to the breast, which is an obvious clinical manifestation. Muscles are weaker due to the inability of the hormones to be secreted that should have been responsible for strengthening the integrity of the muscle structure of the body. Poor muscle and skeletal coordination may lead to weaker muscles and bone activity. Intelligence is also affected because the smooth muscles affect the flow of impulses across the brain of the person with Kleinfelter’s syndrome. Patients might experience reading difficulties, speech disability, and inability to coordinate logic and memory pattern for patients with Klinefelter syndrome. Symptoms become severe if the patient shows more X chromosomes, which could further affect their muscle coordination throughout their lives.
(IV) Kleinfelter’s Syndrome can be detected through prenatal diagnosis, in which the blood of the infant will be tested right after being born to identify any genetic anomalies. Another diagnosis is through karyotype testing that seeks to test the lymphocytes of the patients with the condition. Blood extraction determines the level of hormones that the patient possesses seeks to discover any anomaly behavior present in the blood. Serum testing is also essential to test the level of gonadotropins of the patients. The follicle stimulating hormone as well as the luteinizing hormone will test any presence of azoospermia, which to determine the confirmation of sterility for patients suffering from the disorder. If the baby is still inside the mother’s womb, chorionic villus sampling or amniocentesis is tested as a way to determine if the infant is already showing signs and symptoms of genetic anomaly, which could be immediately resolved after they will be born.
(V) As an educative application of the issue, the first is to give advice to the patient to undergo a comprehensive medical assessment. This will help identify any medical or genetic anomalies that can be immediately resolved in the future. The second is to inform the patient regarding the importance of compliance to any medication to prevent any complications in their health whenever they stop taking medication or not following doctor’s advice. Thirdly, patient should learn more about the information regarding Kleinfelter’s Syndrome so that they will better understand what they are going through. As a patient, it is important to let them know the truth about their current situation so that they will improve their cooperation and compliance with the medication process. Klinefelter Syndrome is a non-curable disease, which is why patients are advised to undergo management as an intervention to improve their health and well-being during the process of therapy and management according to Conn (2013).
References
Conn, P. Michael (2013). Animal models for the study of human disease (First ed.). San Diego: Elsevier Science & Technology Books. p. 780. ISBN 9780124159129.
Cover, Virginia Isaacs (2012). Living with Klinefelter Syndrome, Trisomy X and 47,XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosomes. ISBN 978-0-615-57400-4.
Matlach J, Grehn F, Klink T; Grehn; Klink (Jan 2012). “Klinefelter Syndrome Associated With Goniodysgenesis”. J Glaucoma. 22 (5): e7–8. doi:10.1097/IJG.0b013e31824477ef
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