[Op/Ed] Characterizing people with XXY and similar karyotypes as male by default, or “disorders”, makes obvious intersex variations invisible

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I make the observation that the characterization of a person with XXY, or combinations thereof as described in this article, as male, makes invisible their obvious intersex.

OBGYN.net - Y Chromosome Microdeletions in Infertile Men With Idiopathic Oligo- or Azoospermia - click to read this open access article.

To see them as infertile males is an observation taken from a certain cultural perspective that considers intersex differences as somehow resolvable into actual maleness or femaleness. This essentialist position is responsible for considerable misery in the lives of intersex people.

The authors of this article would then, we suppose, regard XXY intersex people who live as women as somehow “transitioning” or as suffering from some kind of “gender identity” problems.

A different perspective might see XXY people as intersex and those differences explaining why we are frequently infertile. We consider taking an approach that addresses our intersex as natural differences that contribute to certain reproductive issues that might be addressed in a number of ways, including fostering and adoption, as a more helpful and less stigmatizing approach.

Medical regard of intersex differences as “disorders” are unhelpful to those of us who have differences of sex anatomy because they perpetuate the social message that our differences are unacceptable. For many of us this is a message we are forced to endure from infancy onwards, and the Big Lie that intersex biological variations are possible to “cure”.

Although the technical detail of this study is of interest, the social perspective projected from it is problematic.


About 30–40% of male infertility is due to unknown reasons. Genetic contributions to the disruption of spermatogenesis are suggested and amongst the genetic factors studied, Y chromosome microdeletions represent the most common one. Screening for microdeletions in AZFa, b and c region of Y chromosome showed a big variation among different studies. The purpose of this study was to investigate the prevalence of such deletions in Saudi men. A total of 257 patients with idiopathic oligo- or azoospermia were screened for Y chromosome microdeletions by 19 markers in AZF region. Ten (3.9%) patients had chromosomal rearrangements, six of them showed sex chromosome abnormalities and four patients had apparently balanced autosomal rearrengements. Eight of the remaining 247 patients (3.2%) with a normal karyotype and no known causes of impaired spermatogenesis had Y chromosome microdeletions. Among these, six patients had deletions in AZFc region, one case had a deletion in AZFb and another had both AZFa and AZFc deletions.

In conclusion, our study shows that Y chromosome microdeletions are low in our population. We also report for the first time a case with unique point deletions of AZFa and AZFc regions. The lower frequency of deletions in our study suggest that other genetic, epigenetic, nutritional and local factors may be responsible for idiopathic oligo- or azoospermia in the Saudi population.