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By Natalie Angier, Virago Press 1999.
On pages 26 - 35 (In chapter titled "The Mosaic Imagination - Understanding the 'Female' Chromosome"):
To X out is to negate, to nullify. To sign one's name with an X is to confess to illiteracy. Yet we must take pride in our X chromosomes. They are large, as chromosomes go. They are thick necklaces of genes. They define femaleness, or rather they can define femaleness.
Jane Carden is a woman of medium-short height (five foot four), medium age (late thirties), and large style. She projects a dome of charisma all around her. I notice her from across the room: she glows. In part it's her great skin, the sort of skin that appears in Dove commercials but that no soap or cream can slather up for you. Later she tells me that she's never had a blemish in her life, that she is in fact incapable of breaking out. Instead of pores, it seems, she has freckles. She wears a white and brown cotton sweater that extends down to her hips, a rope-chain necklace, and big plastic-framed glasses that make her look at once owlish and girlish. Her hair is brown and very thick - guaranteed thick for life, she says. Just as she is immune to acne, so she is protected against alopecia areata, or male-pattern baldness, a condition that, despite its name, regularly patterns itself across female scalps.
Another reason for Jane's radiance is her live-wire intelligence. She starts talking excitedly as soon as we meet. She's a gifted yakker, the sort who speaks in tumbling, racing sentences that remain articulate despite the speed with which she forces them out. She is a tax lawyer in California. Jane Carden isn't her real name; it's the pen name she uses when she writes about her story on the Internet or in newsletters. She made it up as an anagram of Jeanne d'Arc, a heroine of hers. We sit down for lunch, and she orders toast but then doesn't eat much of it. She's too busy talking. We talked at length that day, and many times subsequently. The only times she slowed down during our conversations were when she started to weep.
Jane of Arc was born in New York City to middle-class Jewish parents, her mother a medical secretary in a hospital, her father an accountant for the city housing authority. They already had two sons quite a bit older than Jane. They considered themselves liberal and open-minded, the sort who assumed, if a son brought a girlfriend home for a weekend, the two would sleep together. Jane was a smart girl, an excellent student who loved school from the first day of kindergarten, and was outgoing and popular. She was neither an athlete nor a tomboy, in the sense of wishing to be and acting as though she were a boy, although she noticed, as so many of us girls did, that boys had an arbitrarily better deal in the world. "I remember my first-grade teacher saying, 'The beauty of America is that any little boy could grow up to be president,'" Jane recalls. "That upset me, because I wanted to be president." Later, in seventh grade, when another teacher said, "Girls have no business being lawyers - there are too many strong words used in the courtroom," Jane decided, Well, that clinches it; I'm going to be a lawyer.
In most ways, Jane liked being a girl. She dressed up in her mother's clothes and high heels and reddened her mouth with lipstick whenever she got the chance. She joined the Campfire Girls. She was happily high-pitched and subject to the usual sense of exuberant entitlement and manifest destiny. She was in short, normal - except that she had a big scar running across her pubic region. "When I inquired about it as a child, I was told I had some sort of hernia operation," she says. Hernia operation: just the sort of thing that sounds forbidding and confusing enough to keep the kid from asking anything else.
But on turning eleven, just as she was about to enter the magic time when girls start dwelling on one topic - menstruation - the story was changed. "I was told that I had twisted ovaries at birth and that they were removed to prevent them from becoming cancerous," she says. "I was told at the same time that I'd have to commence hormone replacement therapy, take estrogen. I was told that I would never have menstrual cycles, that I would never have children." Jane distractedly smears jam over a cold piece of toast, takes a nibble, and puts the toast down again. "One of the problems with being told you had twisted ovaries is that it fixates you on cancer. You get so flipped out that you're dying of cancer that you can't even sort out anything else about what the hell is going on. I was absolutely convinced that my end was near."
Well, not quite convinced. Part of her also recognized the story for what it was: bad fiction. "It didn't make sense, it didn't add up," she says. "But I was too paralyzed with fear to be able to talk about it with my family." Her father told her he was proud of her for not crying about her condition. That was that. From that moment on, there would be no more discussion of Jane's "twisted ovaries" or what this clunky phrase really meant. Certainly there would be no discussion of Jane's feelings or fears. "Sometimes my mother made cryptic allusions to the subject, like suggesting that I should think about marrying an older man, because an older man either wouldn't want children or would have children by a prior marriage, so he'd find it acceptable." "It" being Jane's infertility. "Infertility. That's all that counted, my infertility. Once, during a fight I had with my brother, who's now a psychologist, he screamed at me that I'd grow up to be an old, bitter, childless woman."
She was getting a bit bitter, not about her life or her infertility but toward her family, for their attitude about her condition, their apparent indifference stained dimly with hostility. She knew something was seriously unusual about her case when she was taken as a young teenager to an endocrinologist. The doctor wouldn't explain anything more to her than her parents had, but he clearly found her condition so remarkable that he invited groups of medical residents to examine her while she lay in stirrups, and he never failed to invite outside observers to attend each time she came for a visit. If her twisted ovaries were long gone, what in hell were they looking at up there?
Still, she didn't turn sullen or introverted. She went off to college, spending one year at the all-female Wellesley and three years at the mostly female Vassar. It was the late 1970s, and she embraced feminism. She thrived, academically and socially. She graduated from Vassar at the top of her class. She made throngs of friends. The only thing she didn't do was lose her virginity. She felt too ashamed of everything below her umbilicus. She didn't want to think, in any intimate sense, about her missing organs, her amenorrhea, the vagina that had been such a source of fascination to so many medical students, and she didn't want a lover thinking about any of it either.
But she didn't stop dwelling intellectually on her disorder. After graduating from college, she went to law school in Florida. It was during her first year there, while poking around in the medical library, that she found the story of herself. She saw pictures - the kind where the patients' bodies are shown but the faces are Xed out - and she read descriptions, and she knew the truth immediately and absolutely. she had what was then called testicular feminization and is now more commonly known as androgen insensitivity syndrome, or AIS. This is a fairly rare condition, affecting about one in 20,000 births. But in its rarity it has something to teach all of us, about how to think about the genetics of sex, and about the correspondence between our chromosomes - the readout from a fetal chromosome screen that will tell you, Ta da!, your baby is a girl or a boy - and our brains and our bodies.
People with AIS do not exist to instruct a benighted world, and some resent being regarded as genetic anomalies that clarify genetic commonness, being the ones in the doctor's steel stirrups, being the ones whose faces are blotted out in textbooks but whose bodies are naked and available for public scrutiny. Nevertheless, we all need help in learning the obvious, which Jane Carden embodies and which we'll discuss here and in the next chapter: that women are made, not born; that women are born, not made; and that both statements are true in their profound and limited fashion.
If Jane's mother had had amniocentesis while pregnant with Jane, and if she wanted to know the sex of the baby, she would have been told, It's a boy - another son in a son-heavy family. And then, when the baby was born, the mother would have been told, Disregard the previous announcement, it's a girl. Jane has the external genitals of a girl: outer labia, clitoris, and vagina. She has no inner labia, though, and her vagina is short, extending to only about a third the length of a normal vagina. It ends abruptly in a kind of membrane, rather than leading to a cervix that serves as the gatehouse to the womb. She has no uterus or fallopian tubes. She used to have testes in her abdominal cavity, but they herniated noticeably downward into her pelvis and so were removed ten days after her birth. The excised testes were her "twisted ovaries."
Here is what happened to Jane. She has a Y chromosome, in which are embedded a few dozen genes, most of them of as yet undeciphered function. But one gene on the forked-tongue chromosome is quite renowned for initiating the male narrative. It is called SRY, for sex-determinating region on the Y chromosome. It used to be called TDF, for testes-determining factor, but genes, like syndromes, often go through periodic, inexplicable rehabilitations in which they get new names. In any event, SRY does something rather dramatic when it switches on during the eighth week or so of pregnancy: it starts building testes in a male fetus's abdominal cavity. Much later in fetal life, those magical little sacs of maleness drop down to the outside of the body, into the scrotum, and later still they paradoxically become pendulous symbols for bravery and strength - He's got balls! - despite their reputation as the most vulnerable region on a man's body.
In the fetus, the testes bud quickly and begin excreting androgens, hormones such as testosterone. Androgens in turn sculpt the primordial genital buds into a penis and scrotum. But it's not enough to make a male; at the same time, the fetus's female program must be stifled. To that end, the testes also secrete a hormone called mullerian inhibiting factor, which makes fetal structures that might otherwise develop into a uterus and fallopian tubes wither away.
In Jane's case, much of this action unfolded according to standard operating procedure. Her Y chromosome performed as expected, and SRY switched on. She grew little internal testes. The testes worked. They secreted androgens. They secreted mullerian inhibiting factor. The inhibiting factor prompted the dissolution of Jane's primordial womb and tubes. But then something happened, or rather didn't happen. As it turns out, the Y needs the X to complete the creation of Adamically correct genitals. The quintessential female chromosome holds on its grand expanse a surprisingly large piece in the puzzle of man-making. Of its 5,000 genes, one is the gene that allows the body to respond to androgens. It's not enough to manufacture androgens; the various tissues of the body must be capable of sensing the hormones and reacting accordingly. That requires the contribution of an androgen receptor protein. The tissues of the fetus's immature genital bud must be dotted with androgen receptor proteins if the bud is to respond to androgens and form a penis. And that protein is encoded in the androgen receptor gene, on the X chromosome.
Isn't it romantic? The androgen receptor gene could have been located anywhere in the genome, on any of the twenty-three chromosomes - on chromosome three, say, or number sixteen. But no, it's on our chromosome, the big fat boring X chromosome. sheer coincidence, perhaps - although scientists can't say that for sure* (see footnote at end of this excerpt) - but still worth a fleeting "hah!"; We make females, we make males; if you don't see what you want in the window, ask for it inside.
Jane Carden had inherited on her X chromosome a mutated, nonworking version of the androgen receptor gene. As a result of the mutation, her body could not respond to the androgens her testes were releasing in considerable abundance, which meant she couldn't grow a penis or a scrotum. Her body was, and is, androgen insensitive, hence the name of her syndrome.
And so, being androgen-deaf, Jane's body took the course that a mammalian fetus will in the absence of androgens: it chose to go girl. The little knob of her external genitalia became outer labia, clitoris, and a short blind tunnel. The transformation was not complete - no inner labia, and the skin of her vaginal folds is oddly pale, not the usual mauve tone, as Jane puts it, of other white women's genitals. Still, she is a woman, as much of a woman as I or any menstruating, childbearing female I've ever met. With her breasts and rounded hips and comparatively slender neck (to me, one of the biggest giveaways of the female body), she can't help but strike the world as a woman. Most important, she has never doubted her female indentify, even as she stood in the medical library, stunned, desperate, reading about her Y chromosome and the testes she had once possessed.
There are quirky elements to androgen insensitivity syndrome. The absence of acne and male-pattern baldness: androgens are behind pimples and most cases of thinning hair, in men and women alike. They also stimulate the growth of body hair in both sexes. Jane has no underarm hair and nothing but a downy mist of light baby hair over her pubic region, again for lack of responsiveness to androgens. Some people with the syndrome look like mama mia women, the sort who become actresses and models. Jane had her testes taken out soon after birth and needed to take estrogen replacement therapy at adolescence to fill out her female form (and to protect her bones, which are dependent on estrogen). But some women with AIS are not diagnosed until well into adolescence. Their testes didn't herniate in infancy and nobody had reason to question their chromosomal status. When such girls reach puberty, the testes begin releasing substantial amounts of hormones, mostly androgens but estrogen as well. The hormones travel through the bloodstream to sites like the breast area, where the estrogen acts directly on the tissue. In addition, some of the androgens are converted enzymatically to estrogen. The breasts begin to grow, and grow, and grow, to larger proportions in fact than in most women, for it is a woman's capacity to respond to androgens that is part of what holds her breast growth in check. (High levels of androgens likewise keep a teenage boy's chest flat. The gynecomastia, or breast growth, seen in some older men is probably the result of declining testosterone levels; freed of the counteractivity of androgens, the men's circulating estrogen succeeds in prompting a modest growth of the bosom.) AIS women also often grow fairly tall, though why they do is not clear - perhaps another testicular hormone or gene on the Y chromosome promotes a manly height. Eventually, by age sixteen or so, after the AIS girls have developed adult bodies without starting to menstruate, they end up at a doctor's office, at which point their condition is diagnosed.
Good skin, great head hair, full breasts, tall stature. And naturally nude armpits and scant leg hair - and a strapping immune system, Jane insists, because testosterone can suppress immune cells. A number of models and actresses have androgen insensitivity syndrome. Wallis Simpson, the spirited divorcee for whom King Edward abdicated his throne, may well have been an AIS woman. Some historians have said that Joan of Arc had the condition, but most have disputed the theory; nonetheless, Jane Carden took her name as a nom de plume.
The physical specifics of AIS women provide a delicious counterweight to the arguments put forth by some evolutionary psychologists, who claim that a woman's sexual appeal lies in her possession of traits that tell a man, I am fertile and will make you many babies. They have shining skin and thick hair - the signs of health and youth; and youth, youth, youth, we are told, is the measure of a woman's market value. And those generous breasts are supposed to be the emblem of an estrogenic woman, a reliably fecund cycler. Oh, yes, to each body part on a pinup girl a Darwinian tag can be fastened. But these AIS superwomen, these amply endowed icons of fantasy and autoerotic spasm, just aren't Honest Signalers, as the evolutionary jargon puts it. They are, in fact, Cheaters, luring men into the foaming waters of carnality without even the vaguest possibility of conception. What a delight, what a subversion of expectation. The healthiest and most womanly of women are in fact a rendition of Amazon queens, self-possessed and self-defined, women whose bodies have an enviable integrity and a fleshy, non-replicative beauty that razzes Charles Darwin. The buck, the stud, the bull, stops here.
However much women with AIS identify themselves as women, they still feel set apart. Most keep their condition secret from all but a few close friends. Interestingly, many of them say the thing they regret most is not their inability to have children but the lack of menstruation, the event they see as a monthly voucher of femaleness. When other girls talk about their periods, girls with diagnosed AIS keep quiet and emotionally shrink away, as though, like the title character in the movie Carrie, they're worried that the "normal" girls will start pelting them with tampons and sanitary napkins.
Jane spent fifteen years feeling like an untouchable freak, having diagnosed herself by textbook but having no clue how to locate another soul with her condition. "All I wanted was to meet someone else with AIS. It was my life's dream," she says. "I walked around like an adopted child who looks into the eyes of every person and thinks, are you my parent? I'd hear about somebody who couldn't have children, or some other variable like that, and I'd wonder, could she be like me?
I asked my own physician, I asked everyone I could if they knew other people. I called a doctor in Dallas who's probably the foremost researcher in the United States on AIS. Everyone kept saying no. They would act like I was out of my mind for asking, and they not so subtly suggested, who the hell would want to talk about it? Who would want to admit it? My own doctor told me that she had two patients with AIS, one a woman in her forties who was so prominent in the community that she would never want her identify revealed. And the other was an eighteen- or nineteen-year-old girl who my doctor insisted was just doing so well that she really had no need to have contact with anyone. That sounded like bullshit. I knew it was bullshit, because that supposedly well-adjusted eighteen- or nineteen-year-old was me."
Finally Jane again found her answers in a library. While loooking through an issue of the British Medical Journal two years ago or so, she read a letter written by a mother of a seven-year-old girl with the syndrome. The family lived in England, and the woman said they were in the process of forming a support group for AIS girls and women and their relatives. She included her phone number at the end of the letter, but Jane could hardly make it out because the page she was reading was already stained with her tears. Jane cries freely as she talks about the day she found the letter. She doesn't bother daubing her eyes with her napkin. "I can never describe for you what that felt like," she says. "I will never be able to describe that." She photocopied the page. She drove home and practiced. She practiced trying to speak in a normal voice, without sobbing and choking. She practiced saying, "I have AIS," which she had never said to anybody but a doctor before. Still, when she called the woman, she broke down on introducing herself. Several weeks later she flew to England for the support group's first meeting. "I will never have a success in my life parallel to having found the support group and other people with AIS," she says. "Without a doubt, that's the greatest success in my life."
At the group meetings, the women talk about practical issues, such as how to find Lucite vaginal dilators that stretch the short canal into something big enough to accommodate a penis. They avoid euphemism. They talk about themselves as having a birth defect. They talk about scrutinizing their bodies in the mirror, searching for any lingering evidence of maleness. They talk about myths: the myth that links testosterone to libido, for example, in both men and women. If the myth were true, then these women should have no sex drive; they can't, after all, respond to the testosterone their bodies produce. Some sex researchers have said as much about AIS patients - that they're frigid, uninterested, dead in bed. The women themselves come close to spitting in rage at that sort of talk. Whether or not they manage to inflate their vaginas sufficiently to have intercourse, their erotic nature remains intact. They fantasize about sex. They are orgasmic. They lust when there is somebody worth lusting after.
Another myth they defy is the one that promotes testosterone as the "hormone of aggression." If that platitude held, AIS women should be milder and more violet in their shrinking than the average woman. But the opposite is true: the women are, in their way, Joans of Arc of the temperament. One woman says she deliberately plays at being demure so that nobody will catch on to her condition. Jane claims she has balls when she needs them; the surgeons haven't excised them from her character. "I'm just like my mother, an aggressive, obnoxious human being," she said to me. I'm the daughter my mother created. I'm the woman I was meant to be."
*Footnote: Very little is understood about large-scale gene organization - that is, why genes are distributed across the twenty-three chromosomes the way they are. Most of the placement appears to be a matter of chance and convenience, but some genes may be where they are because of how they are designed to perform during development, their accessibility to essential control elements, and the like.
On page 44 (In chapter titled "Default Line - Is the Female Body a Passive Construct?"):
....Jane Carden said that for this reason, the freedom of role plasticity, she was glad to have been born a woman - glad, we might say, that her ancestral female template was not overlaid with male appurtenances.
"I wouldn't want to have been born without AIS," she said. "It was the only way for me to go through this lifetime as a woman. Female experiences are richer, I think, and we have a more complete emotional life. The range of personalities that men can exhibit is much narrower. I have the luxury of being extremely demure, what people associate with being very feminine one day, and being very aggressive and macho the next day. Both are tolerated in women, at least at this point in history. The analogues in men - well, we're just not there yet."
On page 95 (In chapter titled "Suckers and Horns - The Prodigal Uterus"):
....Beyond rhythmicity, the heart and the uterus share another quality, their association with blood. Not all women bleed, but nearly all women bleed, or have bled. Jane Carden said that she regretted her inability to menstruate far more than she did her inability to become pregnant. In that way alone did she feel she was missing something extraordinary about the female odyssey. And she was. There is no clearer rite of passage, no surer demarcation between childhood and adulthood, than menarche, the first period. When people talk of the indelibility of a strong memory, they speak of recalling exactly where they were when Kennedy was shot or the Challenger space shuttle exploded. But what a woman really remembers is her first period; now there's a memory seared into the brain with the blowtorch of high emotion. She feels as though she has accomplished a great thing, willed her presence into being. Emily Martin interviewed a number of women from different social classes about their thoughts on menstruation, and all gave joyful accounts of menarche....