Shifting Syndromes: Sex Chromosome Variations and Intersex Classifications

In 1942, Harry Klinefelter, along with the endocrinologists Fuller Albright and Edward Reifenstein, described what would become known as Klinefelter’s syndrome. Klinefelter was a rheumatologist and endocrinologist at the Massachusetts General Hospital in Boston working under the supervision of Albright considered by many the ‘most outstanding clinical endocrinologist in the world’. Like Turner syndrome, Klinefelter’s syndrome was an association of symptoms: gynecomastia (male breast enlargement), smaller than average testes with aspermatogenesis but without a-leydigism (non-production of sperm but with secretion of Leydig cells, the cells in testes that produce testosterone), and increased excretion of follicle-stimulating hormone (a hormone that plays a role in the regulation of growth, puberty and reproduction).

Klinefelter later stated that while he worked with Albright on the series of nine individuals with these symptoms, it was ‘really just another of Dr. Albright’s diseases’, but that Albright had been charitable in letting him be named first on the 1942 paper. Indeed, in the early 1950s there are references to the syndrome as ‘the K.R.A. Syndrome , after the three authors of the paper. After the initial description, the classification of Klinefelter’s syndrome loosened to include individuals without gynecomastia, but with low testosterone and small testes. Here, then, it is adult bodies that can be diagnosed with Turner or Klinefelter’s syndrome, through the association or co-existence of several specific bodily symptoms.

The initial description of Turner and Klinefelter’s syndromes illustrate what Jutel has called the ‘classificatory project’ in medicine. Jutel identifies a shift in eighteenth-century medicine away from a focus on individual symptoms towards a focus on ‘groups and patterns of symptoms that doctors could reliably recognise’ . She draws on Foucault to suggest that between the late eighteenth and late nineteenth centuries, clinical practice ‘removed the symptom from its previously supreme position, seeing it instead as simply one element in a symptom cluster which would constitute the disease’. The classificatory project saw a shift from the idea of bodies exhibiting single symptoms to bodies ‘having’ syndromes, evidenced by the association or co-existence of a number of symptoms. This gave new meaning to syndromes as diagnostic categories and shifted the meanings of human bodies as described by diagnosis. The shifts in the classificatory project were also shifts in the different ways that bodies could be enacted by biomedical science.

While the definition of Turner’s and Klinefelter’s as syndromes made up new categories of people and gave classificatory meaning to particular symptom clusters, these categories bore no relationship yet to older categories of hermaphroditism or the emerging category of ‘intersex’. Despite the reproductive issues and effects on sex characteristics associated with these two syndromes, their original descriptions did not suggest that these bodies were in any way ‘in doubt’, with regards to gender and sexuality. Original work on Turner syndrome included only women, but a number of published articles identified similar symptom clusters in male individuals. Original work on Klinefelter’s syndrome included only men. Significantly, Klinefelter (1986) always maintained that individuals with this syndrome cluster were unproblematically phenotypic males ‘and should never be considered otherwise’ . However, genetic science in the 1950s would significantly change the classification of individuals with diagnoses of Turner or Klinefelter’s syndromes.

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