Klinefelter Syndrome - Literature review Example

Klinefelter syndrome Name Course Tutor Date Introduction Many chromosomal disorders take place early in growth and entail the sex chromosomes. Klinefelter’s Syndrome is one abnormality the falls directly within this category. This syndrome is a genetic disorder the affects the male population. The condition was initially detected in 1942 by Dr. Harry Klinefelter at the Massachusetts Hospital in the U.S (Herlihy et al. 2011, p.633). Leask (2005) claims that Dr. Harry Klinefelter diagnosed this disease when completing his fellowship at this hospital where he was sent to work with Dr. Fuller Albright, who is recognized as the pioneer of endocrinology. He came to study 9 adult men who had a common collection of symptoms at the time of the course (Morris et al. 2008, p.164). This case study involved nine men who had some similarities and was supported by Dr. Albright who led the study (Morris et al. 2008, p.165). This study was published in the Journal of Clinical Endocrinology in 1942 with the result of the case study which was termed Klinefelter’s Syndrome. According to Visootsak & Graham (2006) this report that was published by Dr. Klinefelter on the 9 men identified them as having elevated urinary gonadotropins, testicular dysgenesis, gynecomastia and eunuchoidism, azoospermia, all that have an impact on the immature size of testes, the lowering of the level of testosterone generated by testes, and the infertility. Based on this realization, this essay explains what Klinefelter syndrome is, discusses its symptoms, causes, diagnosis and treatments. Klinefelter syndrome Visootsak & Graham (2006) describes klinefelter syndrome as a set of signs rising from the extra X genetic components in males. This condition is also referred to as XXY or 47,XXY and is a genetic abnormality where there is no less than one additional X chromosome to a normal karyotype in male, for a number of 47 chromosomes compared to the 46 enclosed in genetically normal human beings (Herlihy et al. 2011, p.635). Whilst females bear XX chromosomal structure and males have an XY, people with Klinefelter syndrome bear not less than two X chromosomes and not less that Y chromosome in their bodies. Owing to the additional chromosome, people having the disorder are normally called “47, XXY males" or XXY males". Klinefelter Syndrome affects exists in almost between 1:500 to 1:1000 male children at births or just 0.1-0.2% of the whole population, despite of the race (Denschlag et al. 2004, p.776). In should be noted that it may not demonstrate symptoms in many people. If the physical features related to the syndrome turn out to be clear, they usually emerge after the start of puberty. This syndrome is not inherited but normally happens as a random action during the structuring of the reproductive cells. Figure 1: Human chromosomes It considered that adult males also show thin facial hair and enlarged breast (Leask, 2005). Two groups or researchers established fourteen years later after Dr. Klinefelter’s initially account on the syndrome; which the buccal mucosal cells enclosed an extra chromatin mass (Leask, 2005). Even though the participants were depicted as holding a female sex chromatin which was positive, Dr. Klinefelter argues that the participants were phenotypic males and ought to not be regarded otherwise (Morris et al. 2008, p.168). Symptoms The only consistent technique of detection is the karyotype testing. The level of affection in XXY males physically and developmentally varies extensively from individual to individual. Physical symptoms According to Visootsak & Graham (2006), Klinefelter syndrome is not regularly diagnosed at time of birth and the male child may appear normal and healthy, though there are particular signs which can point out they are affected by this disorder which comprise of a undescended testicles, small penis, and their urethra is situated on the bottom of the penis which is not normal since it should be at the tip (figure 2). As babies, XXY males might have weak muscles and low strength. As they get older, they undergo a tendency of becoming taller than standard (Memydr, 2013). They might have lesser muscle coordination and control compared to other boys in their age. At the puberty stage, the physical characteristics of the syndrome turn out to be clearer, since the male children do not generate as much testosterone compared to other peers, they possess a less facial, less muscular and body hair and broad hips (Visootsak & Graham, 2006). As teenagers, XXY males could have weaker bones, a lower energy level and larger breasts compared to other boys. On reaching adulthood, XXY males appear resembling males with no the disorder, even though they are frequently taller. It is also claimed that boys between 25% and 85% of XXY males have posed some sort of language issues like delayed learning to talk, problems using language to articulate ideas, problems reading, and problem processing what these children hear (Herlihy et al. 2011, p.637). In adulthood, possible traits differ extensively and consists less to no signs of a lanky, affectedness, facial appearance and youthful build, or a round body nature with some level of gynecomastia which is an increased level of breast tissue. Gynecomastia is there to some level in nearly a third of affected people; this is slightly higher percentage compared to the ones in XY population. Almost 10 percent of XXY males hold gynecomastia visible enough that they might decide to undergo cosmetic surgery (Herlihy et al. 2011, p.641). Affected male people normally become infertile, or might have a reduced fertility. Advanced reproductive help is sometimes achievable. Denschlaget al. (2004, p.777) claim that the patients also have hypogonadism in XXY signs in which individuals will frequently have a lower level of serum testosterone but higher levels of luteinizing hormone (LH) and serum follicle-stimulating hormone (FSH). Figure 2: symptoms of Klinefelter syndrome Source: (Memydr, 2013). Cognitive and developmental symptoms Apart from physical symptoms that result to diagnosis of the disorder there are several tests employed which comprise of blood tests to examine the hormone levels, semen assessment to examine fertility since the majority of males affected by this abnormality are infertile because of the additional X chromosome (Herlihy et al. 2011, p.632). The physical test also consists of a rectal test to check an enlarged prostate that is common among people with Klinefelters syndrome and a chromosome assessment to validate the diagnosis. There could also be late motor development that can be handled through physical and occupational therapy. XXY males might sit up, walk and crawl later compared to other babies; they might also face problems in school, such slow learning (Leask, 2005). Cause of Klinefelter syndrome Klinefelter's syndrome is resulted by an additional X chromosome (Morris et al. 2008, p.166). This disorder affects males only. At the time of Meiosis, 46 chromosomes split generating two new cells having twenty three chromosomes each. The additional X chromosome is held due to the nondisjunction action during meiosis I (figure 3). Nondisjunction take place when the X and Y sex chromosomes fail to split, generating a sperm with both X and Y chromosomes. Fertilizing a common (X) egg generates XXY offspring. An XXY chromosome structure is one of the common genetic differences from XY karyotype, happening in nearly 1 in 500 male births (Leask, 2005). Figure 3: XXY syndrome in non- non-disjunction during meiosis1 in male Another approach for retaining an additional X chromosome is by means of a non-disjunction event at the time of meiosis II in female (figure 4). Morris et al. (2008, p.165) assert that non-disjunction takes place when sister chromatids on X and X (sex chromosomes) fail to split. The XX egg is generated that when fertilized by a Y sperm, produces XXY offspring. Figure 4: XXY syndrome in non- non-disjunction during meiosis II in female In mammals having an extra X chromosome, genes on each but one X chromosome cannot be conveyed; this is termed as X inactivation. This occurs in XXY males including standard XX females (Visootsa & Graham, 2006). Nevertheless, in XXY males, a small number of genes situated in pseudoautosomal areas of the X chromosomes, have matching genes on the Y chromosomes and are able of being conveyed. Diagnosis Klinefelter syndrome can be diagnosed through a range of tests, for instance a physical assessment. This entails a rectal examination of prostate gland, since most males having Klinefelter syndrome have enlarged prostate (Visootsak & Graham, 2006). Klinefelter's diagnosis percentage separated by age groups; with major diagnoses happening during adulthood. Approximately 10 percent of cases on Klinefelter are established by the prenatal diagnosis as depicted in figure 5. The initial clinical characteristics may show in childhood or, more often, at puberty, like deficiency of secondary sexual aspermatogenesis and characters, whilst taller stature as symptom may be difficult to diagnose at puberty (Leask, 2005). In spite of the existence of small testes, just a few affected males can be established with Klinefelter syndrome during puberty. Normally, the diagnosis is carried out accidentally because of medical visits and test for reasons not associated with the disorder. Chromosome examination is an away of establishing the diagnosis, and other examinations comprise of semen test and blood tests (Visootsak & Graham, 2006). Figure 5: Klinefelter syndrome diagnosis postnatal Treatment Memydr (2013) claims that the treatment should tackle three key factors of the disorders: gynecomastia, hypogonadism and psychosocial concerns. The genetic difference is irreparable. Frequently people who have clear hypogonadism or breast tissue undergo depression and social anxiety since they are out of their social norms (Morris et al. 2008, p. 167). This situation is called psychosocial morbidity. At least one of the researches demonstrates that timed and planned support ought to be offered for young men having Klinefelter syndrome to improve the existing poor psychosocial results. Herlihy et al. (2011, p.639) state that by 2010, more than 100 successful pregnancies were reported applying IVF technology through surgically removed sperm components from males having Klinefelter syndrome. Physical therapy must be suggested for boys suffering from hypotonia or late gross motor skills which could influence muscle tone, coordination and balance. Conclusion There have been several researches recently on Klinefelter’s Syndrome because the disease is not that old. This disease affects many children because of lack of information about it. As such parents are encouraged to have a regular check up for their children so that in case they have this disorder it can be suppressed early enough. With advantage technology new discoveries about the disease and its treatment can be found. References Denschlag, Dominik, MD., Clemens, Tempfer, MD., Kunze, Myriam, MD., Wolff, Gerhard, MD. & Keck, Christoph, MD. (2004). Assisted reproductive techniques in patients with Klinefelter syndrome: A critical review. Fertility and Sterility, 82 (4): 775–779. Herlihy, AS., McLachlan, RI., Gillam, L., Cock, ML., Collins, V. & Hallpmiday JL. (2011). The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genet. Med. 13 (7): 632–42. Leask, Kathryn. (2005). Klinefelter syndrome. National Library for Health, Specialist Libraries, Clinical Genetics. National Library for Health. Memydr. (2013). Klinefelter Syndrome. Retrieved 17th Dec 2013 from http://memydr.com/klinefelter-syndrome/3529 Morris, JK., Alberman, E., Scott, C. & Jacobs, P. (2008). Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 16 (2): 163–70 Visootsak, J. & Graham, J. M. (2006). Klinefelter syndrome and other sex chromosomal aneuploidies. 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