How Gender Can Go Wrong

She went to get her chromosomes tested. 46,XY karyotype, it turned out, the typical male chromosome. She had no uterus but looked female, with a vagina (albeit one that did not open into a cervix or womb) and breasts. “There’s no reason you can’t lead a normal life,” with AIS, androgen insensitivity syndrome, her doctor said. She says,

“You know that it is coming, but you never knew that it’s going to hurt this bad. The biggest question I had was if this made me male or female.” (Lehlohonolo L. Khumalo, 2016)[1]

Lehlohonolo has androgen insensitivity syndrome,[2] a rare genetic condition that affects sexual development. It occurs when an embryonic person who is genetically male (with one X and one Y chromosome) has cells that cannot properly respond to male-making androgens (caused by mutations in the androgen receptor [AR] gene, located on the X chromosome, passed from the mother to the child). Androgens are the male sex hormones that develop the male sexual characteristics (penis, testicles, etc.) and stop the development of female sexual characteristics. Lehlohonolo was born looking like a female, with a vagina. Her testes had not descended into the scrotum but had been drawn in internally and not formed properly. This was because her (his?) cells could not respond to the androgens.

Lehlohonolo has complete androgen insensitivity syndrome (CAIS). Some people can have partial AIS (PAIS) or mild AIS (MAIS):

• CAIS: Female appearance, no menstruation, sparse body hair, taller stature, undescended testes, infertile (no sperm, and obviously, no ova). 2–5 per 100,000 individuals (anywhere from 160,000 to 400,000 worldwide)
• PAIS: Ambiguous genitalia (enlarged clitoris or small penis), bifid scrotum (divided by a deep cleft or notch into two parts), gynecomastia (benign enlargement of male breast tissue), usually infertile. Around 1 in 99,000 or 80,808 worldwide)
• MAIS: Male appearance, often infertile, possibly reduced secondary sexual traits (facial hair and Adam’s apple). Unknown frequency.

Are these children males? Their chromosomes say so. But in the case of those with CAIS they appear female, and for those with PAIS they appear ambiguous.

Here is a picture of Lehlohonolo in 2016. She is a Christian girl who identifies as female, who looks female. She is sexually attracted to males. Does that make her homosexual? But she cannot have a sexual relationship as a male with a woman (she has a vagina that does not open into a cervix; she does not have a penis). In years past she would have simply been a woman, to all appearances, who could not have children. But with genetic testing she is known to be a male chromosomally, with the potential for male gametes if her testes functioned. She is designed to be a man but the design has not been completed. Is she a man or a woman? Would Senator Marsha Blackburn know?

Lehlohonolo writes:[3]

That day [the day she got her diagnosis] I received so many “You look so pretty” compliments and each one hurt more than the previous one because girls are pretty and boys are handsome, but I didn’t know which one I was… I still can’t wrap my mind around it all. How does it even happen? But it did, and it still does, I’m living proof … I never believed I could be angry at Him, it felt unholy. Though that didn’t change the fact that I still felt anger. He was supposed to be in control, of which He still is. But at that moment it didn’t feel like He was… It wasn’t a mistake. I am an XY female. No mistake at all. I’m a firm believer in God and I also believe He created each and every one of us in His image and I now know that I wasn’t a mistake, a reject, or a factory fault. He knew exactly what He was doing when He made me, and that’s a fact… I know God only hands us a life He knows we’ll be able to handle, and He knew I could handle THIS.

These are not the only anomalies of sexual development that human beings experience, that stretch our understanding of gender. We’ll examine several.

[1] https://sheactuallywritesblog.wordpress.com/author/lehlohonolok/

[2] https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome#Management

[3] You can read her whole story here, https://sheactuallywritesblog.wordpress.com/2016/06/03/coming-out-and-owning-my-intersexuality/