Klinefelter’s isn’t limited to trisomy; boys with it can actually have more than just one extra X chromosome. Tetrasomy (XXXXY) and pentasomy (XXXXXY) have been documented; as the number of extra X chromosomes climbs, the more pronounced the symptoms of this condition tend to become. One of the reasons that a child with tetrasomy or pentasomy can survive is due to X inactivation: a special feature that comes with having more than one X chromosome, extra copies can shut themselves off.
Although the exact prevalence isn’t known, Klinefelter syndrome is thought to occur in about one in every five hundred to a thousand males, and is the second most common genetic disorder overall (in live births) that is caused by extra chromosomes. (Down syndrome is the most common.) Men with Klinefelter’s are almost always sterile. Physically, they can be characterized by having small testicles, are often relatively tall, exhibit a tendency toward higher levels of body fat, and are more likely than normal XY men to have gynecomastia, which is the development of female-looking breasts.
Turner syndrome is a disorder in females caused by a missing chromosome, a monosomy of the X chromosome: instead of the normal XX, females with Turner’s are just XO. This, of course, gives them a total of 45 chromosomes. A normal female karyotype is 46-XX; a woman with Turner syndrome is 45-X.
Because they have only one X chromosome, girls and women with Turner syndrome generally produce insufficient quantities of various hormones, including estrogen. These hormonal deficiencies affect the sexual and physical development of women with this condition. They are almost always infertile, although advances in fertility therapy have allowed some women with Turner syndrome to become impregnated with an embryo created from a donor egg and carry a pregnancy to term. Outwardly, Turner syndrome is often characterized by short stature, minimal breast development, and webbing of the neck. This condition also correlates with an increased risk of cardiovascular problems, including congenital defects in the formation of the heart and valves.
Turner syndrome is a particularly good example of the limitations of “intersex” as a catch-all term for DSDs. Women with Turner syndrome are not sexually ambiguous from a physical perspective—although this condition is certainly a disorder of sexual development in that it impedes the development of a fully functioning female reproductive system (they can have sexual intercourse like other women) and secondary sexual characteristics—nevertheless, without medical intervention, they are sterile.
Congenital adrenal hyperplasia, or CAH, is a disorder that results in faulty regulation of hormone production. In its most severe form, it can also cause devastating dehydration, due to salt wasting, in male and female infants alike that, when undetected, can lead to death within a few weeks of birth. Typically, male infants with CAH are at greater risk for this condition because they are born with normal-appearing genitalia so CAH may not be diagnosed before a dangerous degree of dehydration sets in. In its milder forms, especially in genetic females (XX karyotype), it can cause ambiguous genitals. In those cases, an overproduction of androgens causes them to develop some external male sexual characteristics. The physical manifestations of CAH range significantly, depending on its severity. This can range from a slightly larger than normal clitoris and a slightly smaller than normal vaginal opening to what appears to be a penis and scrotum. In the latter case, the scrotum is empty, because there are no testicles. Increased androgens during fetal development has steered the direction of external physical development into somewhat of a male direction, but without the presence of the SRY gene (from the Y chromosome), the gonads themselves head down the ovarian route of development. At the same time, the high levels of androgens prevent the female urethra from forming normally, causing some of these girls to urinate through their clitorises. In these instances, because of physical appearances, the child is occasionally, at least initially, thought of as male and assumed to suffer from undescended testicles. Some forms of CAH also require surgery to close the opening between the uterus and bladder. If it’s needed, a vaginal opening is often created at the same time.
Other instances of CAH are milder and do not even manifest until later in childhood. Baby girls may appear normal at birth, but as they grow older and androgen levels rise, they begin to display some male sexual characteristics. They may develop increased muscle mass, facial hair, and even enlarged clitorises.
A condition that occurs in genetic males and can result in ambiguous genitalia is called 5-alpha reductase deficiency. It is unusually common in some communities, including one in the Dominican Republic, where one mother of ten reportedly has four children with the condition. Some forms of 5-alpha reductase deficiency manifest rather dramatically at puberty, when children who were born appearing to be girls start to develop male sexual characteristics, including a penis, and testicles that suddenly descend. The villagers actually call the condition guevedoche, or “balls at twelve.”
As you’re no doubt beginning to realize, there is a broad gray area between indisputably male and indisputably female. Any combination of male or female traits from chromosome pattern to genitals to reproductive systems to secondary sexual characteristics can produce an individual who is not strictly male or female. And on top of all of that, there are those people who seem to be born entirely male or female but who feel anything but.
The magazine New Scientist tells the gripping story of a woman they call Sally Jones and her son Nick (their names were changed to protect their privacy). Nick has insisted he is really a girl since he could first speak; when he was five he announced that “God has made a mistake.” He regularly dressed as a girl and began scratching his skin raw when he got an erection. In 2006, when he was thirteen, Sally found him holding a knife getting ready to amputate his penis.
Nick was diagnosed with gender identity disorder (GID), a rare but terribly traumatic condition in which there is a complete disconnect between one’s physical sex and one’s self-perceived gender. This condition is diagnosed when there are no physical or genetic gender inconsistencies, when the disconnect is between body and mind. Gender identity disorder is involved in an individual’s sense of core identity. It is part of the answer to the question “Who am I?”
Alison George, a biologist and editor at New Scientist, writes:
So what is GID? It is not simply a case of boys being effeminate or girls being tomboys—although affected children do reject the toys, activities and clothing typical of their gender. Boys with GID often assert that their penis is disgusting and will disappear. Girls commonly claim that they will grow a penis and say that they do not want to develop breasts or menstruate. Essentially, gender identity is how someone perceives and identifies themselves that is irrespective of both biological sex and sex orientation.
Exactly how gender identity occurs is a matter of much debate and disagreement. Some believe that people whose gender identity is at odds with their physical bodies and who apparently do not have an underlying genetic or hormonal disorder have a purely psychological condition. But others believe that there may be other physiological influences. A new study, published in 2008, by Austrian scientists found that specific versions of the gene, CYP17, were found to be more common in female-to-male transsexuals, than in women who did not identify as transsexuals. It’s thought that female-to-male transsexuals may have higher levels of testosterone because of the version of CYP17 they have.
With a lot of help from advocacy groups like ISNA, and as new research embraces the possibility that gender identity may be physiologically rooted in the brain and not just the genitals, the medical community has begun to adjust its approach. The old approach might best be characterized as “cut first.” When babies were born with ambiguous genitals, doctors and parents would “assign” a sex to a given infant, perform cosmetic surgery to bring the infant’s genitals into “conformity” with its new assignment, and hope for the best. Of course, if you believe that gender identity is the result of a complex neurological stew in which genetics and hormones and environment all play a part
, it’s not hard to imagine those sex reassignments going awry fairly often. Which they have.
There’s the story of a seven-month-old Canadian boy named Bruce whose routine circumcision went so badly awry that doctors recommended sex reassignment as a girl. His parents took their advice, Bruce underwent further surgery to fashion female genitals, and his name was changed to Brenda. By the time he was fourteen, he had completely rejected feminine clothes and behaviors and called himself David.
Dr. Eric Vilain, professor of urology and human genetics at UCLA, is a member of the ISNA medical advisory board and one of the leading researchers into the genetics of sexual determination and identity. He is also on the forefront of those fighting to make sure that individuals with these conditions are treated with a level of thoughtfulness and concern for a patient’s lifelong well-being and happiness. This approach goes beyond the hush and rush philosophy of the past—keep the disorder quiet and rush quickly to a sex reassignment surgery. Vilain is currently studying how gender identity may be chemically established in the brain through mechanisms that are distinct from the sex hormones and gonads. “What really matters is what people feel they are in terms of gender, not what their family or doctors think they should be,” says Vilain.
The work of groups like ISNA and scientists like Vilain has led to an emerging move to hold off on appearance-related surgery until the child is old enough and mature enough to make decisions on their own, with the advice and support of family and professionals.
If gender identity is at least partially rooted in the brain, what about sexual orientation? And if sexual orientation has some genetic roots, how has it persisted in the gene pool, given evolution’s preoccupation with reproduction and the obvious challenges homosexuality brings to that endeavor?
CHAPTER 6
let it be
In 1972, Linda Wolfe, an aspiring graduate student studying anthropology at the University of Oregon, was in need of the perfect dissertation topic. A psychologist she happened to know, who had spent some time studying a troop of Japanese macaques, told her that the macaques were spending a great deal of time sexually pleasuring each other. Well, big deal. Besides eating and sleeping, what else are monkeys supposed to do but make babies, right? Right—except the sexual contact this psychologist described had nothing to do with making babies. It was female-to-female. Lesbianism ruled the troop.
Now, the macaque troop in question had a shortage of males, so researchers at the time thought the lesbian behavior might be analogous to same-sex relations that occur in prisons. Given only one outlet for sexual contact, many choose same-sex over nothing at all. So Wolfe took the obvious next step: she went off to Japan to study a troop of macaques with a more balanced ratio of males to females. You guessed it. Again, lesbianism ruled the troop.
That’s not all Wolfe discovered. Macaques were very into female-to-female sexual contact, but they weren’t indiscriminate about their sexual partners. Like humans, they were choosey. And, like humans, they avoided sexual contact with close relatives. She observed sexual contact between cousins, but never between mothers and daughters or grandmothers and granddaughters. One popular theory regarding homosexual contact among animals (yes, it’s not just macaques, as we’ll see shortly) is that one individual asserts dominance over another by forcing the contact. But that wasn’t the case here; when the female macaques paired off, it was a two-way street; they seemed to pleasure each other.
Evolutionary biologist Paul Vasey is a leading homosexuality researcher. Like Wolfe, he has spent many years studying lesbian behavior in Japanese macaques. Female homosexual sex in macaques isn’t just random; macaques engage in elaborate courtships that can last up to a week, although they also engage in the monkey equivalent of a quick afternoon romp.
So what’s going on with these macaques? Japanese macaques live in a matriarchal society; females are dominant. Some researchers believe that the rampant female-to-female sexual contact among macaques helps to reduce aggression and provide social bonding. It obviously doesn’t foster reproduction per se—something else is happening. As Vasey succinctly states: “Traditional evolutionary theories for sexual behavior are inadequate and impoverished to account for what is going on.”
Linda Wolfe thinks the reason behind all the lesbian sexual contact is straightforward—they do it because they like it. Today, Professor Wolfe is chair of the Department of Anthropology at East Carolina University. When I asked her what she thought about the evolutionary origins of homosexuality, she said, “It probably has no evolutionary significance. The females still get pregnant no matter if they engage in occasional homosexual activity, and even continue to do so [engage in homosexual activity] after they’re pregnant as well.” I asked if her years of studying sexuality in Japanese macaques had shed any light on human sexuality. “It’s just part of the repertoire of what primates do,” she said. “When it comes to macaques, who knows what’s inside their heads? We can’t ask them, but it may just be part of the way they enjoy to pleasure themselves and each other.”
Macacques are certainly not alone in terms of homosexual contact in the animal kingdom. In fact, as Joan Roughgarden, professor of biological sciences and geophysics at Stanford University, documents in her book Evolution’s Rainbow, homosexual contact is pretty rampant among all sorts of animals. Roughgarden has a different take on evolution and homosexual behavior than Wolfe. She thinks homosexuality has an evolutionary purpose, just not one that’s related to reproduction. Instead of asking how homosexuality could persist when evolution is only concerned with reproduction, she points to the vast incidence of homosexual acts among animals and thinks we should be asking whether sexual contact serves some other evolutionary purpose besides reproduction:
My discipline teaches that homosexuality is some sort of anomaly. But if the purpose of sexual contact is just reproduction, as Darwin believed, then why do all these gay people exist? A lot of biologists assume that they are somehow defective, that some developmental error or environmental influence has misdirected their sexual orientation. If so, gay and lesbian people are a mistake that should have been corrected a long time ago. But this hasn’t happened. That’s when I had my epiphany. When scientific theory says something’s wrong with so many people, perhaps the theory is wrong, not the people.
Roughgarden believes that homosexuality is actually a trait that evolution has preserved in species after species because, like heterosexual contact, it promotes intimacy, fosters bonding, and defuses aggression and tension, all of which increase the likelihood of survival for members of a species. Her book examines homosexual contact in many species to press her case. Here’s some of what she describes:
Male big horn sheep live in what are often called “homosexual societies.” They bond through genital licking and anal intercourse, which often ends in ejaculation. If a male sheep chooses to not have gay sex, it becomes a social outcast…. Giraffes have all-male orgies. So do bottlenose dolphins, killer whales, gray whales, and West Indian manatees…. Bonobos, one of our closest primate relatives, are similar [to macaques], except that their lesbian sexual encounters occur every two hours. Male bonobos engage in “penis fencing,” which leads, surprisingly enough, to ejaculation. They also give each other genital massages.
Roughgarden worked with a curator and artist to create an exhibition entitled “The Sex Lives of Animals” at the Museum of Sex in New York City. The exhibition, which opened in July 2008, described animals masturbating, performing oral and anal sex, and even acting like exhibitionists. It explores homosexual contact among lions, giraffes, elephants, bison, and dolphins. In short, it makes it incredibly clear just how enormous the sexual diversity of the animal kingdom really is.
All told, homosexual behavior has been documented in hundreds of mammals, birds, and other species. Cataloging animal homosexuality, biologist Bruce Bagemihl published Biological Exuberance: Animal Homosexuality and Natural Diversity, a 750-page encyclopedia that documents homosexual behavior in more
than 470 different animal species. And the type of behavior runs the gamut: “Nearly every type of same-sex activity found among humans has its counterpart in the animal kingdom,” writes Bagemihl. And, if you have any doubt about that, consider what Dutch researcher Kees Moeliker witnessed: homosexual duck necrophilia. That’s right, Moeliker watched a male duck copulate with a dead male duck for an hour and fifteen minutes, and caught it all on film.
BONOBOS ARE A type of chimpanzee that live in central Africa. They are thought to be our closest living relative. And they have a more varied sex life than just about any other animal out there. “If you’re looking for homosexual sex in vast quantities, forget humans,” says British primate scholar and evolutionary biologist Robin Dunbar. “It’s bonobos you want. It’s scandalous. They’ll have sex with anyone, never mind the sex or age.”
Bonobos live and search for food in large groups of twenty or more. All that bumping and jostling as they compete for food and attention can lead to lots of tension, which is why many scientists who study them believe their constant sexual interaction may be designed to soothe anxieties and reduce those tensions. Dunbar goes on to say:
One plausible explanation is that all this is principally a bonding device…. They’ll be always bumping into one another, treading on each other’s toes, and noticing that Jemima over there’s got a temptingly nice fig; they need something that will diffuse conventional stresses and rebuild relationships after squabbles…. Where we bring chocolates and flowers, they groom and kiss instead…. The idea is that the relaxing, rewarding qualities of sex have been captured for social purposes, to reduce conflict and hold the group together.
How Sex Works Page 14