When Aaron Thompson recalls cutting the umbilical cord between his wife and their firstborn child, it’s not the joyful symbolism of welcoming a daughter into the world that makes him cry. It’s the voice he still hears, at once banal and foreboding, of a delivery room nurse in Orange County, Calif., who looked between his newborn’s pudgy legs and simply uttered, “Huh.”

Thompson, which is not his real name, repeats the sound of that voice, low and flat, and more tears flow. “I started paying attention then,” he says. “Then another nurse looked and said the same thing, in the same way. Then they called the doctor, who says, ‘There’s something wrong with your daughter, but I’ve got a C-section to do, so I’ve got to go.’”

‘Have you named the baby yet? You might want to wait.’

What was “wrong” with the Thompsons’ daughter — a potentially life-threatening form of the endocrine disorder congenital adrenal hyperplasia — wouldn’t be medically diagnosed for a few more days. One of its effects, however, was immediately apparent: genitalia that could have been mistaken for male, or, owing to a malformed vagina, something in between.

“I was in shock,” says the child’s mother, Samantha. “I remember later one of the doctors saying, ‘Have you named the baby yet? You might want to wait.’”

Until that night in the maternity ward where his daughter was born, Aaron Thompson, a police officer, says he wasn’t aware that what were popularly called hermaphrodites even existed beyond the realm of mythology. Yet now he knows his daughter’s so-called ambiguous genitalia place her within a broad and unsettled diagnostic grouping known as disorders of sex development, or DSDs.

GÉrard Dubois

Deciding how, or even if, DSDs should be treated is trying the skills, minds and hearts of all concerned. A jagged divide has opened between those who believe in surgery to “fix” a baby’s sex and those who say — barring medical necessity — a child’s genitals should be kept intact. The arguments touch on the complex nature of gender and sexual identity, on what makes up a person’s sense of self, and who — or what — decides what that might be. The issues are roiling the community of pediatric bioethicists to such an extent that today many of its members are hesitant to publicly express their opinions for fear of hardening the divide. “Everybody’s got a dog in this fight,” says one.

Even the nomenclature is a minefield of confusion, anger and hurt. Terms used include intersex, DSDs, true hermaphrodite, female or male pseudohermaphrodite, sex reversal, or simply the medical names of some 30 specific conditions, each with its proponents and detractors. And that’s just the clash over words.

The Thompsons’ daughter, now a beautiful 5-year-old who wears a medical alert bracelet for congenital adrenal hyperplasia, is by every medical indicator a girl. Like her younger sister, she has XX chromosomes, ovaries, a uterus and Fallopian tubes. But because her adrenal glands lack an enzyme to make the hormones cortisol and aldosterone, her body produces more androgen, a type of male sex hormone. In utero, this caused her genitals and, many medical authorities believe, her brain, to become “masculinized,” which, in turn, is associated with behavior typically linked to males. Today she must take daily hormone medication to stay alive.

Her parents call her a tomboy but are quick to point out that her mother was one, too. And their daughter’s genitals, they say, now look like those of any other little girl. At the age of 6 months, she had surgery to reduce the size of her clitoris and open her partially fused labia. At least one follow-up surgery, around the time of puberty, will likely need to be performed to counteract narrowing of the vaginal canal.

Samantha Thompson, an accountant, says before she and her husband agreed to the surgery, she researched the pros and cons on the Internet, recalling how “some people called it mutilation,” and how adults with DSDs who underwent genital plastic surgery as infants warned that their sexual organs and their psyches remained horribly scarred. Many such adults have begun speaking out about what they say was medical ignorance and hubris, and their parents’ sense of shame.

Even given a marked improvement in today’s surgical techniques and an increase in psychosexual awareness, surgeon Linda Dairiki Shortliffe, MD, professor of urology at the Stanford School of Medicine, says, “There is no right answer in many of these cases. That’s why it’s so hard to give advice to parents. We really don’t know what that person is going to be when they grow up.”

Katrina Karkazis, PhD, senior research scholar at Stanford’s Center for Biomedical Ethics, who authored the 2008 book Fixing Sex: Intersex, Medical Authority and Lived Experience, says narrow ideas about gender, societal and medical discomfort with such ambiguity, and distraught parents’ belief that they must surgically make their child normal as soon as possible have led to avoidable mistakes. “If we slow things down and think about it more,” Karkazis says, “better decisions would be made.”

But to parents such as the Thompsons, who say their daughter’s genital masculinization was not especially pronounced, there is little debate about the benefits of choosing surgery. “The doctors said if she didn’t have it, she might have trouble menstruating and there could be other problems, like bladder infections, and an enlarged clitoris can be painful if erect,” says Samantha Thompson. “Plus it could be visible in a bathing suit.”

“It’s a physical birth defect,” adds her husband. “If it were webbed feet, wouldn’t you fix that? She’s not going to remember it. It was a no-brainer. It is not a sexual orientation question.”

Boy or girl? At its basest level, our sexual markers chart our identity as human beings. Outside of some plants and invertebrates, there is no true third way; no animal has a complete set of both male and female sex organs, tissue and chromosomes. There are, however, a variety of sexual combinations that arise in humans, even within the recognized normal range for hormones, organs and genes. Not unlike the astounding variation in, say, the shape of people’s noses, the appearance of human genitalia varies too. Locker room talk and pornography aside, there is no gold standard that can determine what works best.

But what if something goes “wrong”? In the seventh week after conception, the complex process of sex differentiation begins in the human embryo. Within the chain of interactions among genetic, molecular and physiological processes, the possibilities for biological detours are vast. A so-called true hermaphrodite, for example, might be born with an ovary and a testis, or a combination of the two known as an ovotestis. The child might have an external organ that looks like a penis, or an enlarged clitoris, or a variation of the two that could be described as a clefted lump of tissue with a nubbin in front.

This is not something polite company talks about, nor even within the scientific community is it studied much. Often owing as much to the stigma as to the relative rarity of occurrences, there are no hard numbers on which research might be based, as yet no national surveys or database. Longitudinal medical studies that gauge how adolescents or adults have fared after genital plastic surgery as infants are sparse.

Categories are also ripe for dispute. Do hypospadias, the common congenital anomalies in which the opening of the urethra is somewhere other than the tip of the penis, fall under the umbrella heading of DSDs? Some medical researchers say they don’t; others adamantly disagree. As such, estimates on the frequency of intersex conditions in the United States range from one in every 2,000 live births to about half that.

Cleft lip or palate, which occurs about once in every 550 live U.S. births, is one congenital anomaly to which ambiguous genitalia are often compared. Says one prominent pediatric urologist who does frequent genital surgeries on infants, “I see all these photos in the Wall Street Journal, kids with holes in their faces; they’re pleading for money to fix cleft palates. Well, I can’t show these penises, which look absolutely terrible. People would say it’s child pornography.”

It’s the secrecy, the whiff of tawdriness, that still sets medical and social treatment of DSDs apart.

In a private dining room at Stanford Hospital in the fall of 2010, pediatric endocrinologist E. Kirk Neely, MD, flanked by university colleagues and two DSD patients’ rights advocates, talks of the “Balkanized medical care” that intersex children and their parents receive. He refers not only to Stanford, but to the patchwork and inconsistency that is the norm nationwide. This is the fourth meeting of Stanford’s fledgling DSD team, its formation spearheaded by bioethicist Karkazis, and the effort is still so unformed that members go around the table to introduce themselves.

But already there is consensus that to end what Neely, a clinical professor of pediatrics, calls the “general catch-as-catch-can” approach to treating infants with DSDs, Stanford needs a more formal team. He hands out raw census data on possible DSD cases at Lucile Packard Children’s Hospital for the past year, about 50. Next he passes around his laptop, which displays a full-screen photograph of the latest case of ambiguous genitalia in the intensive care unit.

GÉrard Dubois

Says child psychiatrist Richard Shaw, a professor of psychiatry, “Longer-term, ours should be a model program, a nationally recognized program.” Heads nod all around.

Pediatric endocrinologist Avni Shah, MD, a clinical instructor in pediatrics, offers that she was pleasantly surprised to learn that pediatric and adolescent gynecologist Paula Hillard, MD, a professor of obstetrics and gynecology, seated beside her, had been summoned to consult on two intersex babies within the past two months. But, as those around the table agreed, that was a matter of chance: A pediatric urologist who routinely performs plastic surgery in these cases — genitoplasty — might just as easily have been called.

In an earlier interview, Hillard, who spent 23 years at Cincinnati’s Children’s Hospital, recalled an adolescent patient who had her clitoris amputated in infancy. “How can I think anything other than, ‘Why was this done?’” she asked. This and several other surgical outcomes in patients she has treated have cemented her belief in a measured, team approach to treating infants with DSDs.

The most medically influential case in the annals of intersexuality didn’t stem from an intersex birth, but from a horribly botched circumcision in 1966. Bruce Reimer’s penis was burned beyond repair when he was 8 months old. Numbed by the news that their son would never sexually function as a typical man, his parents agreed with psychologist John Money, PhD, of the newly established Gender Identity Clinic at Johns Hopkins Medical Center, to “transform” Bruce into Brenda at 22 months.

With his identical twin brother unwittingly acting as a control, Bruce would go on to test Money’s theory that with surgery, hormone treatment and gender-specific socialization, gender identity could be successfully, and unambiguously, switched. Despite mounting evidence to the contrary, the case of John/Joan as Money called it in his research papers was trumpeted as an unqualified success. Coming from a leading authority on intersex conditions and the psychological ramifications of ambiguous genitalia, the findings, backed by Money’s earlier research, lent global legitimacy to the practice of sex reassignment in infants. Money’s implicit message to pediatric urologists and endocrinologists was that they could, in essence, surgically or hormonally channel an intersex child into whichever gender they chose.

Then Brenda, at the age of 15, learned the truth behind her tortured existence within a life that never fit. After refusing one last time to undergo surgery that promised to complete her anatomical transformation, Brenda’s father told her about the genesis of her forced femininity. The adolescent immediately switched back to male, adopting the name David and demanding male hormones to speed the process. He had his breasts surgically removed and a rudimentary penis attached all before he was 16 years old.

But David Reimer, despite having married a woman and adopting her children, despite having told his story publicly in the hope of sparing other children a similar tragedy, killed himself in 2004. Money, now deceased, never admitted that the success of the Reimer sex reassignment was anything but.

With the help of Reimer’s supervising psychiatrist, a rival researcher, Milton Diamond, PhD, now retired from the University of Hawaii at Manoa, tracked down Reimer to document the disastrous outcome. “The evidence seems overwhelming that normal humans are not psychosexually neutral at birth,” Diamond wrote.

But what of children born with ambiguous genitalia? Are they, according to the Freudian notion still prevalent today, dependent upon a penis or a lack thereof to define their gender identity? How often is this view imposed on infants through genital surgery? What’s right, and whose call is it to make?

A leading researcher on DSDs, William Reiner, MD, a pediatric urologist and psychiatrist at the University of Oklahoma, says the answers still largely depend on where a child is born. Outside of a handful of teaching hospitals, UC-San Francisco, the University of Michigan and the University of Pittsburgh among them, few U.S. institutions have any established protocol for the always surprising, and often shocking, event of an intersex birth.

“There is no standard of care,” says Reiner, also on staff at Johns Hopkins. “Usually the approach is determined by who you happen to see first. In the Western world, everybody expects to have a perfect child to begin with. So if they aren’t perfect, they’re all upset. Most of what has evolved [in the treatment of DSDs] over the last half of the 20th century has more to do with people’s ideas and views and thoughts and biases than it has to do with any kind of data.”

When Lisette Dickinson, which is not her real name, was born in 2004 she had several strikes against her. She came from an unstable home in a hardscrabble area of the deep South, her twin sister died shortly after birth and Lisette herself was in poor enough health that when social workers removed her from her biological mother a few weeks later, they placed her in a foster home for medically fragile kids.

The reason state adoption officials labeled her a “special needs” child, however, was her sex. Nobody could say with any certainty what it was. Her biological mother called her a girl like her twin, but, as Lisette’s adopted mother explains, the child had what looked like a normal-sized penis as well as a vagina. At the hospital where she was born, they’d called her a boy. Medical tests later confirmed a small uterus, one teste and an ovotestis.

“Here’s this absolutely beautiful kid, but social workers couldn’t find a family for her,” says Lisette’s adopted mother, a psychiatrist in South Carolina. “They removed her from one foster home and put her in another. But there were problems with the other children in the home, and that mom told people about [Lisette’s] condition. They were afraid too many people would find out.”

As such, the state Department of Social Services called what amounted to an emergency hearing to determine what to do about this odd and fascinating case. An endocrinologist testified that the child wouldn’t be adoptable without an easily identifiable sex and advocated surgery, says Lisette’s adopted mother. A pediatric urologist, also favoring surgery — and soon — said the child’s gender could go either way.

For reasons that the girl’s adopted mother says are still not clear, a family court judge ordered that Lisette be surgically transformed into a girl, usually the easier surgical option. So when the child was 16 months old, her phallus was shaped into a clitoris and her testicular tissue removed. Today she is left with half an ovary and a uterus, and surgically created labia. She will likely be infertile.

“I wasn’t privy to the hearing,” says her adopted mother. “Her case worker told me after the fact. I was devastated. And so we got her at 20 months. We took her to a developmental pediatrician. We thought she might be mentally retarded; she wasn’t walking, not talking. Now she’s normalized out of that. But I always thought she should have been a boy. Her testosterone level is so high.”

Her mother says friends of Lisette’s siblings, noticing the masculine clothes the 6-year-old often favors and the tools and cars with which she plays, ask if she is a boy or girl. Lisette simply grins and declares she’s a girl.

“She is the coolest kid,” says her mother. “I don’t want her to be angry. I want to be careful not to make her angry that they did this surgery. My gut says that it was really stupid, and it makes me angry. But I don’t want to bias her that way.

“But she’s asked me, ‘Will I be a man when I grow up? And I say, ‘Yeah, you might be.’”

‘Here’s this absolutely beautiful kid, but social workers  couldn’t find a family for her.’

Using technology to shape ourselves and, without their consent, our children, has been a mainstay of bioethical debate for decades. Circumcision, foot-binding, growth hormone therapy and even tattoos and body piercings spring to mind. When it comes to treatment of DSDs, however, the term debate underplays the vitriol. Activists complain of medical arrogance, of being ignored and belittled. Many, including the 3,000 members of the International Intersex Organization, are loathe to accept the very phrase “disorders of sex development,” which was adopted by mainstream clinicians after the American Academy of Pediatrics published its Consensus Statement on Management of Intersex Disorders in 2006. Activists say disorder implies pathology, and that people with atypical variations in sexual organs, hormones and genes are, by nature, freaks.

“People are surprised that I’m well-adjusted, that I’m confident and happy about who I am,” says Hida Viloria, who was born intersex 42 years ago and has never had surgery or hormone treatment. “I refuse to let bigotry influence my self-esteem.”

Since testifying before a hearing investigating “the medical ‘normalization’ of intersex people” convened by the San Francisco Human Rights Commission in 2004, Laurence Baskin, MD, chief of pediatric urology at UCSF, rarely speaks publicly about the complex decision to surgically assign a gender to an intersex child.

“I thought they were going to shoot me,” he says of his experience at the hearing.

But Baskin, like many other surgeons and medical clinicians who treat these children, is acutely aware of how much remains unknown about the long-term ramifications of assigning gender in infancy. In a recent review article in Pediatric Urology, he and his co-authors called for further study to assess sexual function and psychosexual development in people on whom genital surgery was involuntarily performed.

GÉrard Dubois

Baskin says he empathizes with adults now suffering from bad surgical outcomes, and wishes they had had the same level of care available today. “And in 10 or 20 years, it will be better,” he says, moments after performing an infant genitoplasty himself. “But most of those who are talking out now come from split families, and some of it centers on the fact that they were born with terrible problems. But I’ve seen kids with terrible problems who have really good families. With love and empathy and proper care, these kids do fine.”

Pediatric urologist Hsi-Yang Wu, associate professor of urology at Stanford, notes that an established surgical technique that pulls the clitoris under the pubic bone — now known to cause painful orgasms — is no longer used. Using a surgical textbook to illustrate, he speaks in an interview of a preferred, nerve-sparing, technique used since the mid-1990s in which the erectile portion of the clitoris is removed.

While he called the surgery “not particularly difficult,” like his colleagues, Wu was quick to add that the long-term outcome remains unknown. “But I have a concern about waiting, too, about letting the child make the decision, as if that would be easier. I’m not sure it is. What I tell parents is, ‘You have to make decisions for your kids on everything, all the time.’”

Physicians argue that torn between cultural norms and expectations, the complexity of gender identity, and a dearth of hard research data, they strive to offer the best medical advice they can. And there are small differences, they note, that have gone a long way toward humanizing medical treatment during stressful times.

Says nurse practitioner Angelique Champeau, who coordinates UCSF’s DSD clinic, “We used to be very quick to assign a gender. We don’t do that anymore, and we’ve taught the nursing staff not to call a baby it. We have a list of baby names that could go either way. And for the first time two years ago, we sent home a child without assigning sex. The parents actually bonded with their baby, not with their baby’s sex.”

‘People are surprised that I’m well-adjusted, that I’m happy about who I am.’

But alliances within the loosely connected network of researchers, clinicians, parents and adults with DSDs continue to shift, groups splinter and dissolve, and the level of mistrust even among advocacy groups remains high. Some groups demand an end to all cosmetic genitoplasty on children with DSDs at least until the child is old enough to give consent; others warn that alienating physicians will not help their cause. Adding to the chill is a nascent effort to hold physicians and hospitals legally accountable for genital surgery that, years later, has left their former patients unable to sexually perform or even experience sexual sensation.

The fall meeting of the Stanford DSD team was, in many ways, emblematic of the dilemmas involved in delivering the best care to DSD patients and their parents during a time when social concerns hold such sway. Even here, among generally like-minded colleagues, questions percolated about which pediatric urologist to ask to join the team; some were known to favor early surgeries, while others were not. And in an age of rising costs and more restrictive insurance coverage, the group wondered who would pay for personalized, long-term medical and psychosocial treatment of DSDs; the scramble for funds for more recognized conditions is already fierce.

At the meeting, bioethicist Karkazis spoke of making better decisions about genital surgery; about full disclosure; about helping families who have been misinformed or lied to; about humanizing medical, social and psychological treatment during high-stress times. Before the group broke up, assignments were made and schedules checked. They met again in January, their team now complete, and gathered again in February to begin discussing cases.

Before Meredith and Lyle Stevenson (not their real names) decided to bring home the little boy who had languished on a Chinese adoption site for more than a year, they did a lot of soul searching. There was the matter of his ambiguous genitalia, which on that basis alone had relegated him to the category of “special needs,” and then there was the fact he would be their fifth child.

But the Stevensons — she’s a stay-at-home mom and he works in the software industry — also live in a small town in the Pacific Northwest. And the message from the pulpit of the close-knit church in which they worship is anything but ambiguous when it comes to matters of sex. Meredith describes it as conservative and unyielding: Man marries woman and, God willing, children result.

“So this was one other thing that entered the picture,” Meredith says. “My husband and I had to think long and hard about our feelings toward homosexuality. Say we raised him as a boy and he falls in love with a boy. It could mean we picked the wrong gender. Or it could mean he’s homosexual. We had to make sure we were fine with homosexuality because we didn’t know for sure where he fell on the gender spectrum.”

What slight research exists shows little, if any, direct link between homosexuality and intersex conditions. Still, the connection persists. Anecdotes abound about children presumed to be one gender behaving in ways typically associated with the other. And the notion that exposure to prenatal hormones can shape sexual orientation goes back decades. What studies there are do show, for example, that women exposed to high levels of androgens when they were in utero have a slightly higher rate of bisexual and homosexual orientation than those who were not.

None of this — now — means much to the Stevensons. Their little boy, 4 years old, who has XY chromosomes like a typical male, but no testicles, happily sings in the background as his mother explains. Against the advice of a pediatric urologist who urged at least the application of topical testosterone on what he called the smallest penis he’d ever seen, the couple have decided to simply let their child grow into who he is, without surgery or other treatment, without adopting fears over the stigma of a male unable to urinate standing up.

When, during a family vacation, the child begged his parents to buy him a dress, they did — and allowed him to wear it throughout a flea market despite stares from passersby.

“I felt it then,” Meredith says. “That was the only point that it felt a little weird. But, you know, considering this whole thing, I think maybe I couldn’t have done this with my first child. When it’s your first, you have all sorts of expectations. But by your fifth child, you’ve filled all the holes in your own life and you just let the kid be who he is.”

 

E-mail Dianne Klein