So in another thread, the topic of the problems with labelling all or most 47,XXY intersex people as having Klinefelter Syndrome came up. So it's time to summarise why this is such a problem. 1/18

In 1942 Dr. Harry Klinefelter described a condition amongst male patients which subsequently became known as Klinefelter Syndrome. The description includes height, body shape, primary & secondary sex characteristics, and cognitive issues. 2/18

These symptoms may include hypogonadism, microorchidism, gynecomastia, infertility, and increased risk of certain other conditions (e.g. osteoporosis, muscle weakness, chronic fatigue, etc.). 3/18

In 1956 the karyotype microarray test was developed to determine a person's chromosomes. This was subsequently used through the late '50s and '60s to determine whether there was a chromosomal explanation for Klinefelter Syndrome. 4/18

Which meant that a sample set of people with Klinefelter Syndrome needed to be found and tested by the medical scientists pursuing this study, largely in the UK (ref. Patricia Strong, 1959). 5/18

Rather than approaching diagnosed people in the general population, which would require explicit consent from either the patient or their parents, depending on age; the researchers decided to limit their search to those places where additional consent was not required. 6/18

Which meant that the Klinefelter Syndrome sample set was sourced entirely from prisons and mental institutions (back then frequently still referred to as sanitariums). 7/18

About a dozen or so such individuals were found and karyotype microarray tests were performed. In each of these dozen inmates and/or psychiatric patients with Klinefelter Syndrome, the karyotype testing found them to be 47,XXY. 8/18

Those performing the studies then drew the unscientific conclusion that because all their identified subjects with Klinefelter Syndrome were 47,XXY then all 47,XXY people must be males with Klinefelter Syndrome. 9/18

This is a definition which persists to this day, in spite of the growing evidence to the contrary (including 47,XXY females who have given birth without IVF or other medical intervention). 10/18

This is also where some of the more degrading cognitive or psychosocial assessments of 47,XXY were derived from. All the patients identified for these tests exhibited poor cognitive function, poor impulse control and often violent behaviour. 11/18

Instead of considering these traits and behaviour as stemming from their experiences and trauma, and factoring in the matter that they were all already in psychiatric institutions or prison; these traits were also added to the definition of Klinefelter and 47,XXY. 12/18

In the decades since there has been some work to reverse that particularly nasty pseudoscientific definition, but there are still elements of it in existing definitions. 13/18

Though I'm sure it's not the whole reason for it, I am fairly sure that these poor definitions and conclusions have contributed considerably to the high rate of “therapeutic terminations” of antenatally identified 47,XXY pregnancies. 14/18

Here in Australia that termination rate is 75%, but Switzerland is still the highest at 88%. Largely because women are often told that Klinefelter children have a poor quality of life, will suffer mental impairment and low life expectancy. 15/18

On a side note: I don't actually object to a woman choosing to have or not have a child with any given condition. I object to the deception used by medical professionals to influence that decision towards terminating 47,XXY, 47,XXX, 47,XYY and other intersex conditions. 16/18

Getting back to my original point, the pseudoscience which permeates the entire Klinefelter Syndrome classification essentially boils down to trying to cram all XXY people and mosaics into being a subset of Klinefelter instead of considering Klinefelter a subset of XXY. 17/18

This is still perpetuated by many endocrinologists, some (but not all) of whom seem to take offence at the suggestion that their predecessors may not have correctly applied the scientific method to their work. 18/18