e-learningsite.com

free essays
Free essays

The XYY Syndrome- Sociology

TheXYY Syndrome- Sociology

TheXYY Syndrome- sociology

TheXYY syndrome, also clinically referred to as the 47,XYY syndrome is achromosomal disorder that affects 0.1 % of the male population atbirth. The disorder is caused by abnormal cell division in a maleparent’s sex chromosome Y during sperm synthesis, or duringconception when the male and female eggs meet and fuse to conceive anembryo. The abnormality in cell division leads to the presence of anextra Y chromosome in the sex chromosome pair, which typically hasone X chromosome and one Y chromosome in a normal offspring. Thus,the normal XY constitution of the individual’s sex chromosome pairis altered to form an XYY combination, while the normal number oftotal human chromosomes (46) changes to 47 (Cohen&amp Shim, 2007).The condition is thus also called 47,XYY syndrome. The condition maynormally not be easily detectable for a significant percentage ofvictims as most can still have normal lifestyles, but there areseveral far reaching implications especially with regard to socialdevelopment of persons exhibiting this syndrome, mainly from a youngage and continuing throughout life. This paper will explore thesociological development issues surrounding this condition, and itsimplications in social work and social policy development.

RiskFactors and Theory

XYYcondition is exclusively a male condition. All male populations areat risk of XYY, though cases of female phenotype and XYY symptomshave been reported (Genetic Alliance, 2013). All male races are atrisk of XYY, however, a study reported by Genetic Alliance (2013)suggests that, white and Japanese races have similar prevalencelevels, while blacks may have a lower risk. In addition, thecondition has no relationship with parental age, whether maternal orpaternal. The condition has not been expressly linked with diabetes,even though evidence exists that links increased incidences ofchromosomal mutation with diabetes. XYY has also been reported amongcases of intracytoplasmic sperm injection (ISCI), a method ofAssisted Reproductive Technology, therefore implying the generalizedprevalence of its predisposing factors.

Geneticalterations leading to the formation of the XYY sex chromosome havebeen studied over time by researchers in various institutions.Generally, the majority of incidences are believed to occur duringsperm formation. The male can have sperm cells with an trio formationof XYY, a factor that increases the likelihood of the male passing onthe condition to his male offspring. It is not always the case that amale victim’s sex chromosomes are all XYY, as the abnormality inthis formation is not genetic. Thus, any normal man can have apercentage of XYY chromosomes in their sex chromosomes pool. It isonly when a double Y chromosome is passed on to an offspring thatthis condition is transmitted. The chromosomal division anomalyhappens at the Meiosis II sex cells division stage, and may onlyaffect a small percentage of the overall cell population.

Etiology

47,XYYsyndrome is a purely parent originated condition. Studies indicatethat it is either initiated in the process of spermatogenesis in thesecond meiotic phase or through post zygotic mitosis. The first caseshows meiotic nondisjunction. In the typical cell formation, a malesperm cell undergoes cell division in which each of the 22 pairs ofsimilar chromosomes divide up to establish identical sets of newchromosomes. The 23rdpair, which is not a set of identical chromosomes but a union of anelongated female X chromosome and the shorter male Y chromosome, alsodivides to produce a new XY pair. However, in this division, the malechromosome Y may divide but fail to separate, leading to theformation of a YY chromosome instead of a single Y chromosome. Thus,the new cell formed has an XYY 23rdpair, instead of an XY pair. In the second case of post zygoticmitosis, formation of the XYY chromosome forms in mitotic processes.During formation of a zygote, a man’s sperm cell comes togetherwith a woman’s ovum. The resulting gamete undergoes rapid celldivision in order to form the embryo. During this division, each ofthe undifferentiated cells divides to establish new cells. If duringthis process a Y chromosome fails to split entirely, the resultingchromosome pair may have the XYY combination, leading to the 47,XYYsyndrome. Mitosis is division of body cells resulting in formation ofexact copy of the dividing cells, as contrasted with meiosis, whichis the division of cells for sexual production and which normallyinvolves mixing of chromosomes from two separate individuals toproduce a new chromosome pair with an entirely new geneticconstitution (RareChromosome Disorder Support Group, 2006).

Phenotype

Phenotyperefers mainly to the main physical appearance of features of personswith 47,XYY syndrome. There are no rigidly prevalent phenotypictraits with all victims of the syndrome, but there are certain traitsthat are significantly, and even lesser which are dominantly commonwith XYY victims. Buyse, 1990, observes that all victims are ofnormal form and development as infants. In addition, postnataldiagnosis of this condition is said to be usually realized in thefirst ten years of the person’s life, but this is not always thecase (Ross,2012). 47,XYYindividuals, however, show a tendency to be taller than the averageindividuals of the same sex. A study conducted in the UK revealedthat eight boys diagnosed with the syndrome exhibited an averageheight of 188cm, as compared to their fathers who showed an averageof 174cm in height, and their female parents had an average height of162.8cm. Researchers have associated this height extremity to highgenetic dosage concentration in some chrosomes (XY type) of SHOX asthe cause (Ross,2012). Individualswith XYY syndrome have no higher mental retardation occurrences thanthe general population.

However,boys having this syndrome have been shown to have more chances ofexperiencing slowed speech, as well as delayed physical and languagedevelopment at their tender age. In addition, boys with thiscondition, though exhibiting normal intelligence, have been observedto have a higher likelihood of developing learning problems, with 54%of victims taking or having remedial sessions recommended for them.Ross(2012) alsoasserts that these individuals may have undescended testicles andhypospadias. Rudnick, 1996, also associates this syndrome with anincreased likelihood of renal agenesis, and cystic dysplasia. Malewith this condition are of average fertility, having normaltestosterone levels, and may grow to adulthood. They may havefamilies and hold successful careers just like the ordinarypopulation does. However, their conditions, if not handled activelyand in a timely manner, may greatly affect their human development,and usually cause developmental and social problems in young and lateadulthood.

Incidenceand Prevalence

Prevalenceof 47,XYY has been variously rated, with some estimates at 1 in 1000male births, and others at 9.89 per 10,000 male births. Horger, 2001,reports a case in which prevalence was shown to be 2 per 10,000births. The table below shows one prevalence analysis.

(Ross,2012)

Thefigures in the table indicate a general average of 13.28 per 10,000male births. This figure translates to 0.132 % of all male births,which is generally comparable to the figures mostly given bydifferent studies. 47,XYY shows no increased incidence in diabetic,younger or older parents, and its occurrence is purely random.Parents who have this condition may have a higher risk oftransmission to their children only if a large percentage of theircells have the karyotype XYY, otherwise there is no increased risk incomparison to the rest of the population. XYY embryos are not at anymore risk of prenatal death than normal children, except in cases ofelective termination when pre-birth XYY cases are determined. Thebirth weights of XYY children are comparable to that of the rest ofthe population. In addition, no occupational or behavioral traits ofparents are associated with increased risk of XYY syndrome (Ross,2012).The condition is not hereditary.

Implicationsfor Human Behavior in the Social Environment

Thesyndrome is likely to socially separate an individual from theirsociety as it advances, unless timely and careful analysis andactions are taken to ensure that the individual fits in a socialenvironment. Diagnosis of the problem should be done as early aspossible, and in any case not later than the first decade foreffective management of the individual’s development. To guide thesocial worker or parent, a recurrent general pattern of detection hasbeen established variously. A social work organization called Uniqueoffers the following trend analysis. In the first year of life, a47,XYY individual shows normal development, and is indistinguishablefrom other children. Between 1-5 years, babies with XYY learn tocraw, walk, talk and acquire basic learning like any other babies.However, they may show a slower rate of talking development. About50% of boys with this syndrome are slower to develop talking skillsthan the average control population. Thus, when developingintervention programs for such individuals, speech aids should beimplemented by the parent or the social worker by the age of 3-4years. If effectively managed, this development lag may be overcomein a few years (StochholmEt al, 2006).

Theage of 5-16 years is a most critical stage for boys with XYYsyndrome. This stage is normally marked with the most robust growthand development in all children, and marks a transition frominfanthood to adulthood biologically. Thus, careful guidance andattention from parents and guardians is necessary to ensure childrenattain a balanced and healthy transition from infanthood to youth. Atthe age of 5 and above, XYY boys already tend to be taller thanothers, and may portray an image of being older and more mature thantheir peers. Yet, their development rate, especially if they werenot earlier diagnosed with XYY and their development properlymanaged, maybe lower than that of their average peer. Adults andpeers may therefore expect more from them in terms of cognitivedevelopment and decision making, instead of helping them achievenormal growth. This conflict is likely to negatively affect thechild, the guardian and the social worker. In addition, someresearchers have placed the academic intelligence of XYY boysslightly lower than the general population. This means that thesocial worker should be quick to explore whether XYY condition existsin a child they feel is improperly placed with respect to their age.About half of boys with XYY require help with school work, andremedial to improve their grades and cognitive development (StochholmEt al, 2006).

Anothernormal trait is aggression and temper. Researchers’ estimate that asignificant number of school boys with XYY have tempers issues andtends to show more aggression than the ordinary children. They alsotend to be more physically active. Helping these children out shouldbe a co-operative effort of allowing the children to channel theirenergy towards constructive, enjoyable activities likely to improvetheir development rate and help them achieve normal growth. In thepost primary school life, the young men are likely to show greateraverage height than their peers, but are otherwise similar to them interms of puberty issues. This normalcy, however, is greatlyinfluenced by the way their XYY condition was handled in the pre-teenyears, and necessary adjustments in their social environment must bemade to manage any emerging issues. While all sociologicaldevelopment issues for this individual may largely follow a normaltrend, the social worker is drawn to the attention of the occasionindividual whose social and interpersonal skills are not welldeveloped, as well as to the individual with autistic traits. Studieshave linked XYY individuals with an increased tendency towards autismin the pre-teen, teenage and young adult periods. If present, suchissues must be handled professionally, and referred to relevantauthorities for timely management. This approach not only helps theaffected individual, but it also helps the worker to realize theirobjectives. One study documented in the official Journal of theAmerican Academic Pediatrics featured a detailed research involving26 male children with XYY, 82 with Kleinfelter Syndrome and 50 normalboys taken as the control. The sociological behavior pattern of thethree groups was compared using such parameters as tendency foropposition, mood swings, speech and language projection, andsocializing pattern among others (Voronaet. al, 2007).One analytical table revealed the results below.(Voronaet. al, 2007)

Thelist of parameters in the graph is an indicator of some social trendsof XYY patients. The variables were measured against a controlpopulation whose rating was 100% within two standard deviations ofthe average observed value. The research revealed that, while XYY andKleinfelter Syndrome (KS) patients exhibited similar outputs, XYYpatients were more severely affected than the KS patients. This is animportant discovery for the social worker because it may be importantto distinguish between XYY and KS patients, both being male anddisplaying similar social disorders. The most severe problem thatseparates the XYY and KS patients is attention problems, where closeto half of all XYY population exhibits attention deficiency, comparedto only 20% of patients with KS syndrome. Other factors are alsosufficiently analyzed to show clear differences between the twogroups, as well as inherent characteristics of XYY individuals.

Inadulthood, the vast majority of XYY individuals exhibit normal lives.Research has shown that 75% of adults hold regular jobs, havesufficient or average social interactions and development, may haveordinary families, and do not stand higher chances or siring XYYoffspring than the ordinary population. However, their social skillsmaybe challenged, especially if the condition was not effectivelymanaged in the earlier years. In addition to this, issues to do withtheir physical appearance, as well as a heightened likelihood ofspeech irregularity, may affect their self-esteem making them eithertimid and withheld or explosive and subjective. The social workermust be sufficiently skilled to handle such cases, upholding theperson’s self esteem and dignity, while at the same time maintainor securing their safety, and realizing their objectives (Voronaet. al, 2007).

Indiagnosing possible cases of XYY syndrome, social workers need tohave sufficient working knowledge of other factors that may have thesame effect as XYY in the male population. For instance, autism maypresent in manners similar to XYY. In addition, social disorder inteens and young adults may exhibit a purely psychological causalpattern due, for instance, to unstable home environment with exposureto violence, substance abuse, parental separation and stigmatization.Thus, proper discriminative analysis involving background checksmaybe necessary. Height, Social

SocialPolicy on the 47,XYY syndrome

Thereare several Acts in the US that protect the welfare of all disabledpersons, and other medical and psychological conditions. The Actsinclude the Individuals with Disabilities Education Act, Americanswith Disabilities Act, and the Rehabilitation Act. The United StatesEducation Department has established legislation under theIndividuals with disabilities Act which provides guidelines foraccess to education facilities of children with learningdisabilities, including XYY children. This legislation has provisionsfor all children with intellectual disability, autism, specificlearning disabilities, as well as the possibility of inclusion for anindividual not previously included under section 504. The Zero rejectrule, for instance obliges all schools to provide educationalservices to children, even in difficult situations of incapacity(Stochholm,Juul, Gravholt, 2010).The Americans with Disabilities Act requires that people living withany form of disabilities should be accorded complete human rights,and all institutions must make amendments to accommodate specialneeds as provided. Social policies regarding the protection ofpersons living with 47,XYY are also established in the Office ofCivil Rights, as well as in the National Association of Protectionand Advocacy Systems, which requires that families register memberswith disability issues before they can be covered under the policy.Children living with XYY and other syndromes are also protected underthe National Information Center for Children and Youth withDisabilities. Thus, social workers should incorporate the help ofthese organizations as well as encourage individuals not yetdiagnosed with XYY who they suspect could have it to seekprofessional help and protection (Ottesenetal.2010).

References

Cohen,P. &amp Shim, M. (2007). &quotHyperpituitarism, tall stature, andovergrowth syndromes&quot. In Kliegman, Robert M. Behrman, RichardE. Jenson, Hal B. Stanton, Bonita F. (eds.). Nelsontextbook of pediatrics(18th ed.). Philadelphia: Saunders

GeneticAlliance (2013). XYYsyndrome.United Kingdom. Available at

http://www.geneticalliance.org.uk/docs/translations/english/25-xyyt.pdf

Ottesenet al. (2010). Increased number of sex chromosomes affects height ina nonlinear fashion: a study of 305 patients with sex chromosomeaneuploidy. AmericanJournal of Medical Genetics2010, 152A(5):1206-1212

RareChromosome Disorder Support Group (2006). UniqueXXY.Available at

http://www.rarechromo.org/information/Chromosome_Y/XYY%20FTNW.pdf

Ross,J. (2012). Behavioraland Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXYKlinefelterSyndrome.Pediatrics 2012129-769

StochholmK. Et al (2006). Prevalence, incidence, diagnostic delay, andmortality in Turner syndrome. JClin Endocrinol Metab2006, 91:3897-3

StochholmK, Juul S, Gravholt C. (2010). Mortality and incidence in 47,XXX andvariants. AmericanJournal of Medical Genetics

VoronaE et. Al (2007). Clinical, Endocrinological, and Epigenetic Featuresof the 46,XX Male Syndrome, Compared with 47,XXY Klinefelter PatientsJ Clin Endocrinol Metab 2007, 92:3458-3465