Sex Chromosome Abnormalities

By Kelsey Foy

The study of sex-linked chromosome abnormalities allows us to exemplify how individuals born with intersex conditions deviate from the typical categorizations that society defines as masculine or feminine traits. Bodies that consist of both female and male traits challenge the binary conceptions of sex and gender. According to the American Psychological Association, intersex conditions refer to “a variety of conditions that lead to atypical development of physical sex characteristics” and “these conditions can involve abnormalities of the external genitals, internal reproductive organs, sex chromosomes, or sex-related hormones”(Schneider). There is a general assumption that intersex solely refers to undeterminable genitals that can be classified as male or female, however as stated above, there are an variety of other conditions that fall into this categorization as well. For the focus of this paper, we will be examining the characteristics of Klinefelter syndrome, which is distinguished in males by the presence of an extra X chromosome that often causes “incomplete masculinization of the genitals”, and Turner syndrome in which females have a partial or absent X chromosome that causes “develop mental anomalies” (Schneider). Both of these disorders involve the incomplete or failure of gonadal development which arguably threatens society’s representations of what is defined as masculine or feminine by displaying physical features that are assigned to the opposite sex.

Illustration of how the process of normal sexual reproduction involves the separation of chromosomes, however in Klinefelter and Turner's syndrome results from a non-disjunction of the gametes during meiosis.

In order to understand the etiology ofsex chromosome abnormalities there must first be an explanation on the process of normal sexual reproduction. After fertilization, which takes place after the male and female “gametes,” that are produced in a division of cells in a process called “meiosis,” fuse together to form a “zygote” (Pai et al. 330). Each male sperm cell contains either an X or Y chromosome and each female egg contains only the X sex chromosome.  If the fused zygote contains the sex chromosomes XX then the result will be female and if the sex chromosomes contain an XY then the result will be male (Money 19). The presence of chromosome abnormalities is a result of expose to mutagens during the fertilization process or problems during meiosis. Such occurrence causes cells to have an atypical amount of sex chromosomes, either too many or too little. In some cases,these abnormalities many not cause any adverse effects and can generally go without notice, however, the more severe abnormalities such as those expressed in Klinefelter and Turner syndrome can impose many complications.

Klinefelter’s syndrome was first discovered by Harry Klinefelter in 1942 and is arguably one of the most severe genetic diseases (Pai et al. 334). The prevalence of Klinefelter’s syndrome is roughly one every 500 male births and is characterized as a “chromosome aneuploidy” which means the presence of an extra sex chromosome resulting in an XXY phenotype (Pai et al. 334). Males born with Klinefelter’s syndrome are “chromatin-positive” that indicates there is a presence of sex chromatin which normally appears only in female cells (Bowman and Engle 297). Since roughly 70% of those afflicted with Klinefelter’s are chromatin-positive, “it was hypothesized that they had begun to develop as females, but had been changed during intrauterine life to imperfect males” but recent studies have indicated that this is incorrect and “the individual with this condition is no longer considered as an example of sex reversal, but as one who has always been male” (Bowman and Engle 297). Even though the stigmatization that individuals with Klinefelter’s are not an example of sex reversal; the characteristics of their condition display many feminine attributes that could threaten one’s ability to feel whole as a masculine being.

A male exhibiting characteristics represented in Klinefelter's Syndrome; notice the breast development and female-type public hair pattern and small testicular size.

The majority of infants with Klinefelter’s appear normal at birth and thus the condition tends to go unrecognized until adolescence when the individual displays abnormalities in puberty (Pai et al. 334).Two of the most common features associated with Klinefelter’s syndrome is “male hypogonadism and infertility” (Chen 1). Frequently, there are “very small number of spermatozoa found in the seminal fluid” which contributes to hypogonadism and infertility (Bowman and Engle 297). Male hypogonadism occurs when the body “does not produce enough testosterone” which “plays a key role in masculine growth and development during puberty” which is why few males are unaware of their condition until they reach early adulthood (“Male Hypogonadism”). Male hypogonadism is responsible for an impaired growth of the testicles and penis and “the excessive growth of arms and legs in relation to the rest of the body” (“Male Hypogonadism”). In addition, males generally show signs of gynecomastia in late puberty which is signed by the development of male breasts and also the irregular distribution of pubic hair often resembling that of female growth patterns (Chen).  Treatment of these insecurities sometimes “consists of a mastectomy (removal of breast tissue) and endocrine treatment, since the testes are frequently underdeveloped” (Bowman and Engle 298). The prevalence of female attributes can impose insecurities to emerge and psychologically impact one’s feelings towards his masculine identity and social relationships.

A female exhibiting characteristics represented in Turner's syndrome; notice the underdeveloped gonadal structures and shield-shaped chest.

Turner syndrome was first discovered in 1938 by H.H Turner and is prevalent in roughly one out of every 2000 female births. Turner syndrome is also known as monosomy X due to the absence or structurally abnormal partial sex chromosome (Pai et al. 348). Turner’s syndrome is recognizably thought of as the “inverse situation of Klinefelter’s syndrome” because these individuals are chromatin-negative which means they lack the sex chromatin that is present in all female sex cells (Bowman and Engle 298). Typically, females afflicted with Turner’s syndrome have ovaries which have failed to develop and do not menstruate or develop secondary sex characteristics, including breast development and public hair (Bowman and Engle 298). In addition to “gonadal dysgensis and a lack of pubertal maturation,” females portray a “short stature, shield chest, webbing of the neck, coarctation of the aorta and horseshoe kidney” (Turner Syndrome). The inability to menstruate and a failure of breast development exemplifies that females with Turner syndrome lack development in distinctive features that are deemed feminine which supports the American Psychology Association’s definition of an intersex condition.

In modern society, the concept of sex identifies specific chromosome differences between male and female and associates distinct features such as bone structure and genitalia that “lacks any asymmetry in its application” (Warnke 126). An individual is categorized as male if he exhibits an X and a Y chromosome and an individual is categorized as female if she displays two X chromosomes. Such “chromosome facts, together with appropriate hormones, cause primary and secondary physical traits that seem to mark clear differences between males and females” (Warnke 127). However, what happens when these lines are blurred and the distinction between sex chromosomes do not fit into these binary categories? Klinefelter’s syndrome and Turner syndrome challenge these clear differences between sexes because they lack the “chromosome fact” that determines whether one is either female or male.  In a society where gender is constructed based upon specific activities and features of ones’ sex fails to include the variations of those individuals whose features vary from the normative representation. There is an notion that the features of gender “cluster together to indicate a “sex” which sorts bodies according to a particular model” (Warnke 130). In this sense, the argument that individuals with Klinefelter’s syndrome or Turner’s syndrome are challenging the ideas of what is considered masculine and feminine within society holds true. Warnke argues that “in order ‘really’ to be a woman one must do more than learn and perform the gendered gestures and activities of a women, one must have the right body and right hormones to cause the desires, reactions, and sensibility of a woman (132). This argument illustrates that essential to constructing gender identity, one must fit the cultural assumptions about what the appropriate sexed body entitles. In both of these disorders, many of the secondary sex characteristics are missing therefore the person is arguably never “really” a male or female. The cultural constructions of gender therefore impose a restriction of these individuals because they fail to fit the normative models of masculinity and femininity. In conclusion, the examination of sex chromosome abnormalities such as Klinefelter’s syndrome and Turner’s syndrome challenges the binary conceptions of sex and gender. These disorders deviant from society’s perception on what is considered masculine and feminine.

Works Cited

Bowman, Karl M., and Bernice Engle. “Sex Offenses: The Medical and   Legal Implications of Sex Variations.” JSTOR. Duke University School of Law, Spring 1960. Web. 05 Mar. 2011.

Chen, Harold, MD. “Klinefelter Syndrome.” Klinefelter Syndrome: EMedicine Pediatrics. Medscape, 22 Mar. 2010. Web. 03 Mar. 2011.

Gardner, R. J. M., and Grant R. Sutherland. Chromosome Abnormalities and Genetic Counseling. New York: Oxford UP, 2004. Print.

“Male Hypogonadism.” Male 09 Dec. 2010. Web. 03 Mar. 2011.

McCauley, Elizabeth, Thomas Kay, Joanne Ito, and Robert Treder. “The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.” JSTOR. Child Development, 1987. Web. 03 Mar. 2011.

Money, John. Sex Errors of the Body; Dilemmas, Education, Counseling. Baltimore: Johns Hopkins, 1968. Print.

Pai, G. Shashidhar., Raymond C. Lewandowski, and Digamber S. Borgaonkar. Handbook of Chromosomal Syndromes. New York: J.   Wiley, 2003. Print.

Schneider, Margaret PhD. “Answers to Your Questions About Individuals   With Intersex Conditions.” American Psychological Association (APA). 2006. Web. 06 Mar. 2011.

“Turner Syndrome.” Center for Interdisciplinary Brain Sciences Research. Stanford University. Web. 03 Mar. 2011.

Warnke, Georgia. “Intersexuality and the Categories of Sex.” JSTOR. Blackwell Publishing, Summer 2001. Web. 05 Mar. 2011

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