The Role of Genetics in Sex Diversity

Sex is a major and complex feature of individual development and concerns all levels of the human appearance – from cells to tissues to hormones to organs to behaviour. It marks embodiment and is the reference for gender. And it may also be the most controversial feature of “the” human body. In recent years, scientific knowledge on the diversity of expression patterns of sex beyond typical femaleness and maleness in human biology has vastly increased. However, in clinical medicine and in cultural attitudes, sex is still very often reduced to the usual binary categories of male and female. Moreover, the categorization into male and female is taken as a given and without a frame of reference. It is seen as a natural fact without further questions about its ontological basis, about the underlying cultural assumptions, and about necessary or possible distinctions within and between the ‘two’. Therefore, the (scientific) understanding of sex is hampered by a traditional doctrine which does not relate to the biological diversity of sex in bodily expression, shaped by an intricate genetic and hormonal regulation. A growing attention to sex diversity and its societal recognition has only partly been connected with biological knowledge, biomedical research and human genetic practices.

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