Let’s talk about (genetic) sex

“In Urdu, the only language she knew, all things, not just living things but all things—carpets, clothes, books, pens, musical instruments—had a gender. Everything was masculine or feminine, man or woman. Everything except her baby. Yes of course she knew there was a word for those like him—Hijra. Two words actually, Hijra and Kinnar. But two words do not make a language.”

The Ministry of Utmost Happiness, Arundhati Roy

To many people, hermaphroditism seems like a faraway concept one reads about in novels or articles. However, there are many people whose gonadal and genetic features would not fit within our limited definitions of “male” and “female” sex. With greater interest from medical and social groups, the terminology we use to discuss intersex is changing. There has been debate about whether or not conditions should be included, such as chromosomal Turner (single X) and Klinefelter (XXY) syndromes, as well as questions about how much trust to place in physical or genetic definitions of intersex. Sex and gender have always been a part of human identity, and the words we use to discuss these concepts have social consequences, such as affecting people’s self-image and leading to othering.

In modern times, the term “hermaphrodite” is being phased out. On the whole, medical doctors are moving away from the word due to its stigma and narrow definition. True hermaphrodites are people with both a testis and an ovary, or a combined ovotestis. However, there are other people with features that do not entirely align with true hermaphrodites, and therefore would be called “pseudo-hermaphrodites”. For many people, being called “true” or “pseudo” could have emotional weight, especially when it pertains to a stigmatized condition. This is why Cheryl Chase, the founder of the Intersex Society of North America, pushed for a medical classification that did not include “true,” “pseudo,” “hermaphrodite,” or mentions of gender. The term “Disorders of Sex Development” was adopted in 2005 after a conference involving Chase and 48 medical professionals. The term received mixed reactions from intersex people and the medical community. It is possible to understand the reactions from both sides. On one hand, it is a step toward developing a more descriptive intersex classification system, but on the other, people with intersex would rather not be called disordered. For a community that has often been mistreated by the public and medical professionals, it is important to consider their critique of medical labels. Though there is no answer to the question of nomenclature, this much is clear: classification systems have always had their limitations, depending on which traits you choose to focus on. The Klebbs system, which has been widely used, focused on gonads. However, the development of genetic technology has revealed another aspect of genetic sex.

Genome sequencing and karyotyping have led to major discoveries about human genetics. Genome sequencing has given scientists detailed “maps” of our chromosomes, which allows them to hone-in on genes that might cause or contribute to disorders. Karyotyping, on the other hand, involves taking a picture of one’s chromosomes to number them and examine abnormalities. One use of this technology is genetic sex research, which could inform our classification of Disorders of Sex Development.

One of the most interesting findings has been the discovery of male and anti-male genes. These genes are activated or inactivated in subtle patterns that produce physical sex traits. The gene WNT4 has been of particular interest. It is generally “on” in females, while “off” in males. When overexpressed, it has been shown to feminize individuals even in the presence of XY chromosomes. It is also interesting to note how the diminutive Y chromosome contains the SRY gene that determines testis development. Without this gene, an ovary develops. With these two examples, it is clear how genetic differences—in activation and inactivation, in presence and absence—can produce different outcomes. It is also possible for people to

have more or fewer than two sex chromosomes. In Klinefelter syndrome, males have XXY, and in Turner syndrome, females have one X. There are many characteristics of these syndromes. Some notable features in Klinefelter males are breast tissue growth and undescended testes. In Turner females, it is the lack of breast development and menstruation. One commonality is infertility. From this description, one can see why these syndromes have been included in the long list of Disorders of Sex Development. Whether or not this label is preferred is up to individuals with these conditions. Though one might not know the full breadth of experiences, the diversity of human sex beyond simply “male” and “female” is something everyone can appreciate.

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