Of Genes, Genitals, and Gender
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Crystal was born at another hospital, so we did not have her medical records and did not know her exact type of CAH. Apparently, Crystal did not have the more serious form of salt-wasting CAH, as she never required chronic hydrocortisone. However, her mother, who accompanied Crystal, reported that the doctors had recommended surgery to “normalize” her genitalia. Usually this entails clitoral reduction and labial reconstruction if necessary. Her mother had agreed to this. Crystal grew into a rambunctious child and was so aggressive by third grade that she was referred for counseling. She had an “anger problem,” especially with other girls, and was even hospitalized briefly because of her violent behavior. She was in foster placement at age eleven and did not do well academically. However, she seemed to be functioning better now and was working on her general equivalency diploma at a community college in Compton.

Crystal’s concern, however, was about her orgasms, so I dismissed her mother and the rest of the team except for the female genetic counselor. Crystal was sexually active with men, though anorgasmic with them. Her partners had noticed her clitoris, which became erect but did not protrude inordinately or interfere with coitus. Her problem was not that anything looked abnormal or that she was anorgasmic in sex, but instead her belief that she had “male orgasms” when she masturbated. Masters and Johnson described a refractory period after orgasm in men but not women, which allows for multiple orgasms in women. Nevertheless, I have encountered men who can have multiple orgasms, and there are many women who are anorgasmic. But is orgasm itself sexed? Crystal was concerned enough about the intensity of her masturbatory orgasms to inquire about further clitoral surgery. The genetic counselor and I pondered aloud the gender of orgasms, but agreed that Crystal should be glad that her clitoroplasty had not obliterated all possibility of orgasm. What’s more, it was not unusual for women to be more orgasmic alone than with a partner. We expressed our concern that any further genital surgery unnecessarily risked nerve damage that could render her permanently anorgasmic or, worse, suffering from sexual pain (which has been a complaint of many intersex activists against clitoroplasty).

Crystal’s case exemplifies a wide network of personal, psychological, and scientific issues centered around intersex conditions (which historically were called hermaphroditism and, since 2005, have been designated as DSD). Many treatment centers report that girls with CAH, particularly with more extreme degrees of genital masculinization, also exhibit masculine gender behaviors (“tomboyism”), male-typical cognitive traits, and high rates of lesbianism, bisexuality, and gender dysphoria (unhappiness and discomfort about being girls). Some CAH studies, however, have not found these traits. People with a DSD tend to be sexual late bloomers, to feel uncomfortable about their bodies, and to avoid medical care, having experienced frequent intrusive medical examinations and procedures as children. The parents of intersex children are often afraid and confused when confronted with the news that their infant has ambiguous genitalia. Sometimes multiple tests are needed to determine the precise DSD diagnosis (if possible) and to make a reasoned sex assignment. Parents also worry if the child will accept the assigned sex and behave in a gender typical way, or if the intersex condition will lead to gender confusion, sexual dysfunction, and “abnormal” sexuality: homosexuality or transsexualism. In addition, patients like Crystal often worry about rejection by partners and about their core femininity.

It used to be the case that doctors decided on a sex assignment by balancing considerations of the appearance of the genitals, reproductive potential, and the possibility of good surgical alteration of the genitals. In general, then as now, surgeons are more successful at creating convincing and somewhat functional female genitalia than male genitalia. Therefore, a large penis-like clitoris in a case of 46,XX CAH would be sacrificed in favor of more visually acceptable female genitalia. On the other hand, a 46,XY infant with an extremely small phallus (or no phallus) would be designated female and surgically feminized (including removal of functioning testes) because penile inadequacy was seen as psychologically insurmountable and surgically uncorrectable. Underlying this “optimal gender” approach was the belief that gender identity was malleable in the first two years of life, especially if the family had no ambivalence about the infant’s assigned sex and the child was not confused by knowledge about an intersex history. Some doctors even recommended not informing the parents about the intersex diagnosis and simply performing corrective surgeries under the cover of correcting a congenital birth defect. Fortunately, those days of medical paternalism are gone in favor of fully informed consent.

The intersex political movement that arose in the 1990’s was spearheaded by adults who had been treated under this approach and eventually grew to realize that it had severely damaged them. They objected to the secrecy, the shame, and the stigma of intersex conditions, and to the delay in mental health services that the secrecy entailed. Some found the genital surgeries hideous, desensitizing, or painful. Physicians also began following up on intersex patients and discovering that in particular diagnoses the standard sex assignment and surgical sexing proved largely wrong.

The most notorious case came to light in the 90’s, concurrent with intersex political activism, concerning someone who had once been the poster child for the “optimal gender” paradigm. David Reimer was not born with a DSD but suffered a terrible circumcision accident that burned off his penis. Psychologist John Money recommended surgical feminization and raising the child as a girl. At the time, Money reported that this was largely successful. However, subsequent tracking of the patient in adulthood revealed that David never was comfortable as a girl and, on being informed of his medical history at age fourteen, promptly reverted back to a male name and gender role. Tragically, he committed suicide in 2004 after multiple personal and family losses. The case became a cause célèbre, and Money was denounced for his influential claim that gender identity is molded in childhood. Although the notion that gender is a “social construct” is a cornerstone of post-60’s feminist theory, Money was not quite as extreme as portrayed in the press, since he always took into consideration biological factors. Money’s detractors argued that the prenatal hormonal environment that masculinized David’s otherwise normal testes and genitalia also masculinized his brain and hardwired him psychologically as male.

Fortunately, such cases of penile ablation are rare. Instead, intersex conditions such as CAH are taken as the “experiment of nature” to test what has come to be known as the “brain organization” theory that sex hormones also sex the embryologic brain.

TWO RECENT BOOKS examine this theory from diametrically opposed perspectives. Rebecca M. Jordan-Young’s Brain Storm: The Flaws in the Science of Sex Differences shreds it to pieces with academic fervor. Although she initially claims neutrality on the issue, she is as viscerally opposed to the “brain organization” hypothesis as Simon LeVay is committed to it. LeVay’s Gay, Straight, and the Reason Why: The Science of Sexual Orientation is a rehashing of his Queer Science (1996) with an update on more recent research in genetics and anthropometrics (body length ratios and inner ear clicks). Although he is skeptical of certain avenues of study (such as adult sex hormone levels or pheromone studies), he is thoroughly convinced that sexual orientation is dictated by biological factors. This conviction is a corollary of brain organization theory: namely, that prenatal hormone levels, perhaps influenced by genes, shape the neurological basis of sexual orientation and closely associated psychological and bodily traits. For both LeVay and Jordan-Young, intersex cases, particularly CAH, play an important evidentiary role, since they are at the nexus of sexual embryology, physiology, bodily anatomy, and neurology. Hermaphrodites have played this role not just since the rise of “brain organization theory” in the 1950’s but since the rise of modern science.

Crystal’s concern about her genitals and gender is grounded in centuries of conjecture linking the genitals to sexual psychology and behavior. Renaissance anatomists initially debated whether the clitoris was a normal structure or strictly a pathological finding in hermaphrodites. Subsequently, late 16th-century physicians worried that a large clitoris was not just an exotic African trait mentioned in classical treatises but present even among European women. Physicians warned that hermaphrodites with a large clitoris might sodomize women. Jean Riolan, French anatomist and personal physician to Marie de Médici, declared that these so-called hermaphrodites were really tribades (women who rub their genitals together). Historian Katharine Park notes that the Renaissance rediscovery of the clitoris reflects broader social and political concerns about female sexuality and autonomy.* One 17th-century physician even reported that the clitoris was colloquially known as the “disdain of men.” Tribade remained a common synonym for “lesbian” into the 19th century, when medical concerns about same-sex sexuality resurfaced.

Richard von Krafft-Ebing (the Victorian father of sexology who coined more terms for sexual deviations than anyone) laid out the basic hypothesis of “brain organization theory” in his encyclopedia of perversity, Psychopathia Sexualis (1886).† In his chapter on “Biological Facts” he noted that every individual whose sexual development is normal “represents bodily and psychological characteristics, which experience shows, are typical of the sex to which the individual belongs.” He hypothesized that this differentiation of the two sexes and sexual types is the result of the process of evolution. He noted that nature often produces individuals who fall short of the “pure type” of man or woman, resulting in women with a penchant for “manly sports” and men inclined to female occupations—needlework, “toilette” (today, hair care products). He eventually asked, “What determines in an individual the development of a well-defined sex type with all the characteristics of a man or a woman?” This is the central question that continues to intrigue researchers and the general public today: Why are women from Venus and men from Mars?

Krafft-Ebing observed that sex characteristics are not simply the product of the gonads, since certain hermaphrodites and individuals with congenital defects of the ovaries develop into a normal feminine type. Rather than the sexual glands, he suggests, attention should be directed to the nervous system. He was quite conscious of the limits in scientific knowledge in this area and is almost condescending in noting researchers’ predilection for studying the effects of gonadectomy on pre- or post-pubescent animals. While he did not doubt the importance of the “internal secretions” (hormones) on the development of the “sexual life,” he suspected that neuropsychological sex characteristics may have preceded the development of physical sex characteristics.

Krafft-Ebing’s conjectures on the biology of masculinity and femininity were put forth several decades before the discovery of the so-called sex hormones. Yet his writings represent a general conviction in Victorian biomedical circles that hormones and the brain are at the core of sex differences, and that these differences are a package deal of dichotomized male and female anatomies, genitals, psyches, and sexualities.

One of his case studies exemplifies this hypothesis: Mrs. von T., the 26-year-old wife of a manufacturer (Case 167), newly married, was brought in by her husband because, after a banquet, she had leapt upon a woman, covering her in kisses and caressing her like a lover. Mrs. T. reported that before marriage she had confessed to her fiancé her “contrary sexual sensation” and had accepted conjugal duties on the condition that she be on top during coitus so as to fantasize that his body was that of a beloved woman. Krafft-Ebing proceeded to describe the typical family history of the time, detailing all the psychopathology that was presumed to be the hereditary antecedents for the neuropsychiatric “degeneration” of the patient. Mrs. T.’s father was neuropathic and of the feminine type with a history of hysteria and weak sexual drive. The mother, on the other hand, was hypersexual and “known as a Messalina.” At twelve, Mrs. T. had felt powerfully attracted to girls, but only satisfied this desire at age twenty. She began having sexual affairs with a succession of girls and young women, avoiding men entirely. “She always felt like a man vis-à-vis women.” Initially she found sexual satisfaction in masturbation, until a female cousin introduced her to lesbian love and she added cunnilingus. She always played the active role, never allowing other women to satisfy themselves on her body. She only loved heterosexual women with a voluptuous figure. With such a person she became hypersexual, impulsive, and overwhelmed by passion. In such moments, everything appeared in a reddish gleam and she lost consciousness.

Was this a male orgasm? Krafft-Ebing’s description of Mrs. T.’s “passionate sensuousness” are coded as distinctly unfeminine for the time, but are consistent with her overall masculinity, her penchant for male clothing (even in public), and her extraordinary intelligence. The physical examination further confirmed the patient’s cross-sexing: “The psychic and physical secondary sexual characteristics were partly masculine, partly feminine.” Psychologically she is described as entirely masculine: she loved sport, smoking, drinking, and obtuse philosophical reading. Physically—aside from having intact reproductive organs and breasts—she was masculine in bone structure, carriage, gait, voice, and musculature. And the smoking gun: an enlarged clitoris.

Krafft-Ebing’s precise measurements of pelvic structures was typical of 19th-century anthropometry. Stephen Jay Gould’s terrifically entertaining The Mismeasure of Man (1981) examines a range of human measurement projects including American craniometry and French brain measurements, forensic anthropometry, and the original IQ test. Underlying these research projects, just like Krafft-Ebing’s, is an ideology of evolutionary progress: from invertebrates to vertebrates to mammals, then primates, “primitive men,” “inferior races,” and finally “civilized” Europeans. French and German scientists regularly uncovered objective anthropometric evidence that one nationality was superior to the other. Being all men, these scientists usually assumed that bigger is better—except when civilized white men came up short. Then they would go through the most sophisticated methodological and conceptual contortions to explain why small was, in fact, a sign of progress.

Pierre-Paul Broca provides a good example of this. A French neurologist best remembered for describing a type of language deficit (Broca’s aphasia) and the brain area associated with it, Broca was also the founder of the French Society of Anthropology in 1859. Broca vociferously defended research demonstrating that brain size is correlated with evolutionary progress, intelligence, male over female, and French over German. The olfactory cortex of the brain, however, got larger and then shrank as one progressed up the so-called evolutionary ladder. Broca reasoned that this was because more evolved animals, and certainly civilized humans, relied less on scent for survival. French field ethnologists had already reported that “primitives” could track down enemies, game, and errant woman by scent alone. Broca reported in 1879 the ultimate proof of his hypothesis: his discovery of the “limbic sulcus,” a small notch in the temporal lobe. Supposedly, the limbic sulcus was present in primates and “inferior races” of humans, as well as “idiots and imbeciles,” but absent from intelligent Europeans. This proved that while olfactory prowess had powered evolutionary advancement in animals, it diminished in civilized races that used scent only for discriminating luxuries and not for survival. After all, what would the French be without refined food, wine, and perfume!

Some of the research projects described by LeVay and Jordan-Young have all the scent of Victorian anthropometry. Researchers have tried to correlate the ratio of various finger lengths to sexual orientation. For example, the ratio of the second digit to that of the fourth digit (2D:4D) is higher, on average, in women than men. Several studies have found that lesbians (in particular butch lesbians) have lower 2D:4D ratios than heterosexual women, approaching that of men. The finger length studies of gay men, however, are all over the place—finding higher, lower, or no difference in 2D:4D ratios of gay versus straight men. Nonetheless, LeVay claims these studies support his hypothesis that prenatal androgens shape sexual orientation as well as a “package” of other anatomical, cognitive, personality, and behavioral traits. This package deal of sexual orientation basically includes all of the gay stereotypes: lesbians are masculine and sports-loving, while gay men are effeminate, cute, and gravitate to female occupations. On a few counts, LeVay concedes that gay people are gender typical: for example, it appears that gay men are hypermasculine when it comes to penis size. So there may be a scientific, evolutionary rationale for being a size queen!

LeVay is well known for his research from 1991 claiming that a tiny area of the anterior hypothalamus in the brain is smaller in gay men than in heterosexual men, approaching that of women in size. Multiple objections were raised about the study: all of the gay men had died of AIDS-related causes, and the size of the area, rather than neuron count, was used. Attempts to replicate this work have found less significant results. LeVay, nevertheless, is in the mainstream of neuroscientific research in attempting to demonstrate sexual dimorphism in the brain—differences in male and female brains beyond overall volume (which Broca had noted), but in specific functional areas. The corollary to that hypothesis, as LeVay will readily admit, is that homosexuals have a sex-inverted brain. As Victorian sexologists reasoned, inverts are psychosexual hermaphrodites.

The biology of homosexuality is a subset of the research that Jordan-Young examines, but one dominated by LeVay’s hypothesis that prenatal sex hormones sex-type the brain. She begins her review of brain organization research in 1959 and thoroughly covers its development since then. This encompasses not only research on behaviors and attitudes linked to reproduction in vertebrates, but a broad array of cognitive traits that supposedly differ between men and women. This includes sexual orientation as well as mathematical and verbal ability, geographical orientation, nurturance, and aggression. As many feminists have pointed out, these tend to conform to gender stereotypes: women as nurturing, verbal, emotional, spatially challenged; men as logical, mathematical, aggressive. Echoing decades of sociological, psychological, and historical work, these human gender traits are extremely historically and culturally variable. A feminine occupation or attitude in one society may be seen as masculine in another. Professions that in the 1950’s were highly gendered—like nursing, medicine, or teaching—are much less so today.

ON THE BIOLOGICAL LEVEL, even the so-called sex hormones have a problematic and queer history. Nineteenth-century physicians assumed there were distinct male and female internal secretions (hormones). When these were isolated in the early 20th century, researchers called testosterone (extracted from testes) a “male” hormone and estrogen a “female” hormone. Soon, however, they also found that these hormones were closely related chemically, were present in both males and females, and had essential functions in both sexes. The fact that we continue to call them sex hormones is partly an enduring historical accident and partly the cultural desire to see sex as neatly dichotomized. Still, these hormones do have distinctive roles in the sex differentiation of the genitalia. A high enough level of certain male hormones during a specific interval in embryogenesis will lead to the development of penis-like genitalia regardless of the sex chromosomes (except when testosterone receptors are lacking). Androgen levels are different in adult men and women, but there is an overlap in normal estradiol levels between men and women (early in the menstrual cycle and post-menopausally). The presumed hormonal differences between homosexuals and heterosexuals did not pan out. Testosterone injections to heterosexualize gay men only made them more sexually active with men. Transsexualism cannot be diagnosed by hormone levels; cross-sex hormones, however, distinctly change the secondary sex characteristics of people undergoing gender reassignment.

Thus there are admittedly some sexed functions to these hormones, along with a huge range of non-sexed functions such as bone maturation, blood clotting, and muscle growth. There is similar complexity in terms of cognitive and physical differences between the sexes. For example, there are statistically significant differences on average between males and females in visual-spatial abilities. Men, on average, are better than women at rotating an object in their mind. However, the range in ability is great and overlaps enough that one could not reliably guess the sex of subjects from their mental-rotation test score.

Jordan-Young picks apart a vast number of studies on brain organization theory, criticizing the sexist underpinnings, methodological shortcomings, or statistical failings of each. Her most striking finding is the major shift in how researchers conceptualize “normal” female sexuality. Studies from the 1960’s and 70’s presented a neatly dichotomized sexuality where feminine sexuality was passive, romantic, monogamous, and reserved. It took researchers a decade to respond to the sexual revolution: starting in the 80’s their studies conceptualize normal feminine sexuality as encompassing masturbation, erotic dreams, multiple partners, and an active libido. With so many erotic traits now common to men and women, the only thing left to differentiate the sexes was sexual attraction: “normal” women were attracted to men, “normal” men to women. Thus research on the biology of sexual orientation became critical to the brain organization hypothesis.

All along, however, intersex conditions, especially CAH, were used as “experiments of nature” to build knowledge of the impact of hormones on the developing brain and sexed behaviors. We could not possibly subject human fetuses randomly to cross-sex hormones versus placebo, and then monitor gender differences in their cognition, sexual behavior, and sexual orientation. Intersex subjects, who are often subjected to some cross-sexed hormones, have become a stand-in. However, even John Money in the 1960’s noted the problem of generalizing from the experience of intersex patients to non-intersex people. Do sex hormones have the same effects on people with a DSD as those without? Just as important, does the family’s and the child’s knowledge of an intersex condition have a post-natal psychological effect on his or her gender, sexuality, and cognition? Would Crystal have worried about the intensity of her orgasms had she not been diagnosed and treated for CAH?

While Jordan-Young’s detailed and exhaustive critique of brain organization research is quite welcome, it ironically betrays a scientific insider’s commitment to the ideology of “objective” science. She declares that she approaches her critique as someone trained in scientific methodology who does not want to censure science but rather hopes to instigate better brain-gender research. Her main contribution to this end is to suggest that greater attention be paid to nurture and the myriad ways that family and society shape the post-natal developing brain. This is not new and is certainly shared by the scientists whose work she critiques. Nevertheless, her ideological allegiance to value-free science does seem old-fashioned and perhaps disingenuous. It is hard to imagine any research on such a specifically human quality as gender or such a uniquely human psychological trait as sexual orientation to be free of cultural and historical bias. Scientists can come up with animal models of sexual behaviors and sex selection, but it is a human projection to identify “gay rams” and “lesbian seagulls.” Gender and sexuality are moving targets, like so many human psychological traits, including schizophrenia, ADHD, or happiness.

Scientific knowledge is built on culturally tainted, imperfect research that can sometimes develop into useful and accurate models of the workings of nature. As historians of science have long pointed out, science is always of its time—inflected by prejudices and worldviews that will seem antiquated or downright ludicrous to later reviewers. No biomedical scientist could argue with Jordan-Young’s call to reduce sexist assumptions in studies and to consider the effects of experience on the developing brain. However, research cannot stop solely because it’s imperfect: there are immediate clinical needs that depend on science. I can’t tell parents to come back in thirty years and maybe we’ll have resolved the issue of whether their 46,XX infant with CAH and penis-like genitals is likely to feel like a boy or a girl by kindergarten. Had Crystal been born fifty years ago, she would have been subjected to a total clitoridectomy and have no orgasms. On the other hand, had she been born in 2011, clinicians would be debating whether this extremely masculinized 46,XX infant should be assigned male sex. Crystal hasn’t been back to see us in the clinic. I hope she’s enjoying her solitary orgasms. Maybe some day she will discover shared orgasms in lesbian love; who can say?

Vernon Rosario is a medical historian and child psychiatrist in L.A.