150 years ago, a boy was born to my great-great grandmother. And that was the last time that happened anywhere on my maternal line until my son was born in 2016. This is a story about intersex people.
For 150 years, the women of my family kept having daughters, who either also had daughters, or they were oddly unable to have children. Strange quirk, we assumed. No boys.
In the late 1970s, my mother’s sister had a daughter with Down Syndrome. Genetic testing was done, and it was discovered that although she looked female, she actually possessed the male XY chromosome combination. Her sister was born three years later. And because of that genetic concern, her genes were checked. And she possessed … the XY chromosomes. A third daughter, born a few years later, possessed the usual XX.
Keeping in the tradition, my mother had two daughters. Because of our cousins’ genetic conditions, my sister and I were both checked. Both of us appeared typically XX. And so for more than thirty years, it was dismissed as a quirk, and no one said the word intersex because that wasn’t a thing in 1980.
In 2014 I had a son, breaking the chain of girls. It was an interesting story! I then had two daughters, and didn’t bother to do any genetic checking.
And then in 2020 my sister became pregnant. Early genetic testing said boy, XY. Twenty week anatomy scan said girl. Definitely 100% girl. Uhhh?! As expected, she*** was born genetically male, possessing only male gonads in the form of undescended testes, but female external genitalia.
It was Androgen Insensitivity Syndrome, a genetic mutation carried on the X chromosome. See, all bodies start female. Then, when the hormonal influence of the Y chromosome kicks in, instructions on the X are supposed to detect the testosterone and create male genitalia. Except a person with AIS is non-reactive to testosterone, and the body stays, at least superficially, female. Genetic check would say boy. Presence of testes says boy. Pants check says girl. Making the question of sex (sex. Gender is something else, ok?) distinctly complicated.
If someone has a mother who is a carrier of AIS, there are 4 possibilities. Unaffected XY, and so genetically and structurally male. Affected XY, and so intersex. Affected XX, and so a female carrier. Unaffected XX female and entirely unaffected.
My grandmother was a carrier. My aunt and mother are carriers. My sister is a carrier. When my niece was born, my single non-intersex cousin and I did genetic testing. And we are both carriers as well. My son is an unaffected XY male. My niece is affected XY intersex. Both my cousin and I also have 2 daughters each. And, because it is medically and psychologically relevant, we had them tested. All XX.****
And I was ready to check one more thing: are my daughters carriers? There is a 50/50 chance. And then I stopped, because they are preschoolers, and that is their reproductive decision. They know three intersex people. And if they care, someday they can check their genes and the odds that my grandchildren will be intersex. The intersex people they know will, I hope, be able to talk to them about the beauty of their lives as one of the wonderful variations of humanity.
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