Fortunately, there’s quite a lot of information about Klinefelter’s Syndrome (KS) available elsewhere on the internet and a little bit of clicking around highlights an interesting difference of opinion about it. But before I get into that, T-Vox has quite a useful summary:
Klinefelter’s syndrome is a condition caused by a chromosome nondisjunction in males; affected individuals have a pair of X sex chromosomes instead of just one. It is named after Dr. Harry Klinefelter, a medical researcher at Massachusetts General Hospital, Boston, Massachusetts, who first described this condition in 1942, and is associated with additional risk for some medical conditions.
The XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about 1 in 1,000 male births. Because of the extra chromosome, individuals with the condition are usually referred to as “XXY Males”, or “47,XXY Males” rather than as “suffering from Klinefelter’s syndrome.”
Given the emphasis on chromosomal atypicality, my first thought was that XXY is an intersex variation, and certainly both the International Intersex Organisation (OII) and the Intersex Society of North America (ISNA) list it as such. But a quick scan of the websites of some of the KS support groups (links in my blogroll under Intersex) suggests that’s not a unanimous view, with terms such as KS males and boys/men with KS being preferred. Indeed, many of the support sites studiously avoid using the word intersex at all.
Catherine Harper, in her book Intersex (Chapter 12, Sex Chromosome Variations: Klinefelter’s Syndrome) confirms this discrepancy and points to its source:
Klinefelter’s and Turner Syndromes, and the chromosomal variations that underpin them, are often referred to in the literature on intersex (Fausto-Sterling 2000). Many of those who exhibit their symptoms, however, as well as their collective support groups, and the clinicians who work with them, refuse to acknowledge the term intersex in relation to these syndromes, insisting that Klinefelter’s and Turner are syndromes specific to males and females – not intersexuals – respectively.
The XXY karyotype was discovered in the late 1950s, and the historical route to that discovery is important. Researchers did not seek the chromosomal anomaly in the general population, but rather in men with the already determined Klinefelter’s Syndrome, who were all then found to have an extra X chromosome (Bock 1993). These individuals exhibited the symptoms of a syndrome named earlier by Dr Harry Klinefelter and diagnosed in a group of only nine men who had enlarged breasts, sparse facial and body hair, small testes and an inability to produce sperm. Klinefelter’s sample of nine adult men – or, for the sake of historical accuracy, nine individuals who by visual inspection were understood to be male – was unscientifically small. It was also selected on the terms of symptoms manifest, rather than on examination of a selection of the whole population to determine a sample of those with the chromosomal anomaly. Klinefelter’s sample, however, has powerfully shaped how screening for XXY infants developed. That is, because Klinefelter’s subjects were understood to be male, it was only male (by visual inspection) newborns who were subsequently screened for the chromosomal anomaly. Those then found to have XXY karyotypes were consequently understood to be male in spite of some evidence that this may not be entirely the case.
Klinefelter’s original observations emphasized the apparently male physical presentation of his notably adult subjects, discounting their developed breasts, scanty body and facial hair, forefronting their small testes and male-patterned genitalia, and remaining ignorant of their internal anatomy. The question is, might subsequent investigations of XXY karyotypes have examined the possibility that XXY individuals might be females (XX) with an additional Y chromosome as much as males (XY) with an extra X? Certainly, for those who choose to note the development of ‘feminine characteristics, little body hair, breasts, pear shape’ (Mark, interview 11 May 2005) Klinefelter’s Syndrome might arguably suggest some kind of female-oriented intersex.
That there is no clear agreement about whether or not KS is an intersex variation is a useful reminder that the boundaries of the dominant sex and gender binaries are not as easily defined as many people would like. It once again highlights that enforced normalisation (XXY people are often “treated” by means of breast surgery and long-term testosterone treatment) is nothing more or less than the policing of socially constructed boundaries by medical professionals in order to uphold cultural stereotypes of what is meant by male and female. In my opinion, at that point it becomes a human rights issue around bodily autonomy – and as far as I’m concerned, that’s not only one of the key identifiers of intersex variations but also a valid reason for having a KS Awareness Week.
Previous posts in the category Intersex:
- IAAF still playing god with Caster Semenya’s life (March 12, 2010)
- ‘Sex Not Specified’ (March 9, 2010)
- Q: Caster Semenya, the real “Middlesex”? A: No. (February 27, 2010)
- Medical science: police the borders of identity first, reduce the risk of CAH second (February 20, 2010)
- From the IAAF to the IOC: another (not so) fine mess (February 17, 2010)
- Intersex youth in Gaza (December 21, 2009)
- Intersex Solidarity Day – November 8 (November 8, 2009)
- This week, I have mostly not been blogging about… (September 12, 2009)
- Athlete to be subjected to a “gender verification test” (August 20, 2009)
- Sugar and spice and all things neurobiological (March 31, 2009)
- OII receives a letter from Dr Zucker’s legal representatives (March 21, 2009)
- Intersex Solidarity Day – November 8 (November 2, 2008)
- Disorders of Sex Development (September 27, 2008)