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Unformatted text preview: ife completely. When the radiologists examined the
MRI, they found an internal set of gonads, possibly undescended tes- Where Our Sexes Come From 69 tes, possibly ovotestes—and an underdeveloped uterus. So the doctors
had some blood drawn and ran a few tests. What they came back with
surprised everyone. First, the blood tests showed that the young “man”
suffered from congenital adrenal hyperplasia (CAH). The karyotype
took a few weeks longer and confirmed that Rudy had two very different types of cells in his body; some were 46,XY, as they should have
been, and others were 45,XO, as they should not have been. The final
diagnosis was 46,XY/45,XO mosaicism and congenital adrenal hyperplasia—most likely caused by a congenital defect in an enzyme called
21-hydroxylase that leads to underproduction of cortisol.
Normally, as a fetus develops into a female it is exposed to only
low levels of androgens from the developing adrenal glands and a lot of
estrogen from the adrenal glands and the ovaries. But when 21-hydroxylase isn’t functioning properly, low blood cortisol signals the pituitary
gland to secrete more ACTH (the hormone that normally triggers cortisol production in the adrenal glands). That extra ACTH causes growth
and division of the cells in the adrenal glands and overproduction
of 17-hydroxy progesterone. That leads to overproduction of adrenal
androgens (all produced by the adrenal cortex). During development,
all of those extra androgens cause female fetuses to develop varying
degrees of masculine genitalia. And, depending on many factors, in the
presence of excess androgens, the uterus, the Fallopian tubes, and the
vagina may develop differently.
After all of those tests, the doctors told Rudy that along with congenital adrenal hyperplasia and 46,XY/45,XO mosaicism, he also was a
true hermaphrodite—he had gonadal tissues of both sexes. This diagnosis, complex enough for anyone, flipped everything inside out for
this particular young person. That small change in one gene led to a
world of new possibilities for Rudy, not to mention new fears and new
In the end, both Dorothy and Rudy were laid to rest, and from
those ambiguous ashes rose Kailana, a woman who identifies strongly
with her feminine side, regardless of her past.
For reasons that aren’t clear, Kailana has never suffered from hypercortisolism, or Cushing disease, a common affliction of people with 70 Between XX and XY adrenal hyperplasia. But that doesn’t mean her afflictions haven’t made
her life difficult in myriad other ways.
I asked how her parents accepted her diagnosis.
[They] still will not acknowledge what I am or what they have
allowed doctors to do to me [as a child]. They really just won’t
talk about it. The few times that they did offer me information,
they denied [it] later. Yet, my extended family—aunts, uncles,
and surviving grandparents—have told me a lot of what my
parents won’t, and [they] accept me. . . .
My parents . . . tell me I am making everything up, which
has just made getting help from the medical community even
harder. But it was them that told me my birth name of Dorothy
Maree, they are the ones who said I looked like a girl when I
was born, and my aunts and uncles say the same thing—everyone thought I was a girl, because that is what I looked like
Also, living with a birth certificate that is dated a month
after I was born has raised plenty of questions all by itself, for
me and for doctors. All the medical tests in May of ’93 just
clarified why I have the things [and feelings] I do, why my
blood says female, or kind of female.
A woman with androgen insensitivity syndrome told me she had
experienced some of the same sorts of problems with her parents. There
is something about sex and sex differences in children that lights a candle in a very dark room inside of many of us, a room we prefer to
keep darkened. So when that flame flares, the easiest thing to do for
some parents is to simply shut the door and pretend they never saw the
things that glistened in that candlelight.
So Kailana keeps looking for hard data to try to pin down just who
she really is. She notes, “It’s like some hormone levels are in the normal female range [and] some just too high for [a] male. . . . I’m just in
between the norms for male and female or in the norms for female.”
Kailana sees herself as female, but she is also quick to acknowledge that she is a true hermaphrodite. Kailana moves between those Where Our Sexes Come From 71 worlds with poise and perception. Nonetheless, she still has some major
doubts about what is actually going on inside her.
Really, I am not completely sure of what is or was exactly done
to me. What I find most annoying is the CAH diagnosis. Other
than the right adrenalectomy, I am completely untreated [for
CAH] and have been for the majority of my life. While at the
same time, I am not exactly sure which of the “17” forms of CAH
I actually have, just that it’s the 17-OH progesteron...
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- Spring '14