Is it a boy or a girl? It's the first question most parents ask about their newborn baby. But for a surprising number of infants, the answer is not immediately obvious.
Doctors say as many as 1 in 2,000 babies is born with ambiguous genitalia — neither totally male nor female. For parents, the decision about how to proceed is often agonizing, and the stakes are high: the wrong choice could trap a little boy inside a girl's body or create a girl who longs to be a man.
Now a new study in the New England Journal of Medicine is shedding more light on what factors make us feel male or female. The research examined 16 genetically and hormonally male babies born with a rare birth defect called cloacal exstrophy (unlike cases where the genitalia are ambiguous, male babies born with cloacal exstrophy have a small or non-existent penis).
Traditionally, doctors believed that without a penis, these children would not be able to form a healthy male sexual identity. So, 14 of the 16 babies were assigned the female sex, given female hormone treatments and raised as girls.
But follow-up questionnaires given years later suggest that the female label did not stick very well.
"These children were born male in nearly every respect," explains study author Dr. John Gearhart, professor and chair of pediatric urology at Johns Hopkins Hospital in Baltimore.
The Key? Hormones
Gearhart found eight of the 14 subjects now declared themselves male. All 16 of the children enjoyed typical "male" pursuits such as baseball, football, and hockey. Only one played with dolls, and most rejected feminine clothing.
The study illustrates what was once unthinkable — that a person can feel like a male without a penis — is completely possible, maybe even predictable, given what we now know about how sexual identity is formed.
Hormones are key. "What we now know is that hormones imprint your brain," explains Dr. Craig Peters, a urological surgeon at Children's Hospital in Boston. "We don't know exactly when it happens, but probably even in utero."
Studies like Gearhart's have helped change policy. Now male babies born with cloacal exstrophy would be recognized as male. "One very seldom does gender conversion [for this condition] anymore," Gearhart says.
Yet surgery for other conditions, especially those involving ambiguous genitalia, is still common. "Probably the most common condition for gender conversion is male pseduo-hermaphroditism," Gearhart explains.
So How Do Parents Decide?
Parents and doctors have a variety of scientific tools to tell aid them in determining a baby's sex if the genitalia are ambiguous. Genetic testing is performed to check for the presence of a "Y" chromosome. Males are XY; females are XX.
An internal exam determines the shape of the pelvis and checks for the presence of female sex organs like ovaries and a uterus. Physicians evaluate whether the person has the potential to be a fertile male or fertile female.
Doctors also check the baby's levels of male hormones (called androgens, like testosterone) and female hormones (such as estrogen). In each case, the sex hormones are created by the gonads — testes for males and ovaries for females.
But production of hormones is only half the battle. The body must have receptors that sense the presence of the hormones or sexual characteristics will not develop normally.
Babies who are born genetic males but lack sensitivity to male hormones are sometimes born with ambiguous genitalia, and often the decision is made to raise them as female because treatment with female hormones is considered more successful. A surgeon shapes the genitalia into female sex organs.
At Johns Hopkins Hospital, they have a "gender committee" that meets whenever an intersex baby is born. The team is headed by a pediatric endrocrinologist, but also contains a surgeon, a social worker and a clergyman among others. Together with the parents the team evaluates the baby and decides upon the best course of action.
What is "best," of course, is still under debate, but Gearhart hopes the increased attention to the issue of sexual identity will help future kids caught in the middle. "These long-term studies provide better science for the younger generation," he says.
Intersex Group Calls Surgery 'Mutilation'
Not all those born with ambiguous genitalia are happy about surgery that alters their sex. An organization called Intersex Society of North America, or ISNA, is devoted to educating people about intersex individuals, and they are challenging the way doctors treat intersex babies.
The group contends surgery can damage a person's sexual function for life. The patient may lose feeling in his or her genitals and be unable to have normal sexual relations. Some intersex individuals even call the surgery "mutilation."
ISNA recommends letting the patient decide whether or not to have surgery, which means waiting until a child is old enough to make such a complicated decision.
But many physicians believe it would be more harmful to wait, and worry about the impact of growing up intersex in a world unprepared to deal with such variety. "I've had parents say, 'I can't stand changing the diaper,' " Peters says.
But ISNA argues it is society's job to adjust to intersex individuals and recommends counseling for families and patients dealing with the issue.
While Gearhart praises ISNA for raising awareness about intersex issues and pushing doctors to rethink their positions, he adds, "Initial studies from Hopkins are finding that most intersex people don't support the idea of a third gender."
Notes Peters, "A lot of the adults complaining about the surgery is based on old technology. We didn't know as much then, and surgeons would do things like cut away the entire clitoris. Surgery has improved a lot over 20 years ago."
But some surgeons find merit in ISNA's message.
"It's rare that an enlarged clitoris would cause any medical problems, so we have time to wait," says David Vandersteen, pediatric urologic surgeon and vice-chief of surgery at Children's Hospitals and Clinics of Minneapolis/St. Paul. "[Gearhart's study] suggests that the relationship between external genitalia and psycho-social development is moderate at best, and shows there is good psychological foundation for leaving well enough alone."
Another point of debate is what and when an intersex child should be told about his or her medical history. In Gearhart's study, the children and young adults still living as females have not been told about their male genetic status.
ISNA favors telling kids as much as they can digest while they are still very young. Doctors are less sure about the timetable.
"A lot of bitter adults are bitter because they were never told," Peters says. "I believe kids should know but I don't know when. Finding out this information as a teenager would be difficult."