XXY or Klinefelter’s syndrome? a matter of definition

I am conscious of unconciously initiating a debate about paradigm change in the german-speaking Klinefelter’s community (if existing).

Many if not all of us receive Klinefelter’s diagnosis because an additional X chromosome is present. According to this assumptation, both is mutual exchangeable. Somebody with Klinefelter’s syndrome has karyotype XXY and somebody with karyotype XXY has Klinefelter’s syndrome.

The majority of men with Karyotype 47,XXY clearly feels masculine, even possessing wider hips, pronounced gynecomasty and sparse body hair. Even when they fail in athletic sports and are not able to keep up with peers in team sports. They identify as man and benefit from testosterone replacement therapy, respectively, becoming more masculine: Body hair grows, libido increases and also – let’s say – male strength, the courage to compete with peers.

Under the assumption, all men with this special set of chromosomes would identify themselves and want to feel so with respect to their sexuality, XXY could be automatically defined as Klinefelter’s syndrome – as a result of testosterone deficit.

Truth appears to be more complicated: Like among 46, XY men, there are also 47, XXY men who cannot identify with their gender identity.

In our experience, both in research and in clinical prac-
tice, the two terms – KS and XXY – are almost always
used interchangeably. Yet, the study inquiries that we
received highlighted an interesting issue: Should there be
a distinction between XXY and KS? Males diagnosed with
KS will generally have an XXY karyotype, or variation
thereof. However, perhaps not everyone with a XXY
karyotype should be diagnosed with KS. KS defines char-
acteristics that are only unusual if found in a male. Com-
mon symptoms, such as low testosterone and breast
development, are not unexpected features (or symptoms)
if identified in a female.

Therefore, for an individual with an XXY karyotype who does not identify as male, KS may not be a suitable diagnosis.

The authors of the cited article go even another step forward: Argumention could also be valid for XXY men who identify as man but not with masculinity of the social norm, who consider supposed deficits as accepted part of their being. For them, too, diagnosis of Klinefelter’s syndrome may appear inappropiate.

Despite the known positive and possibly life-extending effects of testosterone replacement therapy, it is likely not suited or even damaging for those who accept their gender identity but do not want to become more masculine: Identity has even a higher value than negative health aspects.

Therefore it is important to acknowledge not all XXY men will accept „norm’s masculinity“. On the one hand, the concerned men should not feel *weird* because they do not fit in the traditional gender role. On the other hand, they should not have to perceive themselves as intersexual all the time, as transported by media reports permanently resulting in enormous stress and shame.

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