Boy or girl? The baffle of the sexes

Is it a boy or is it a girl? It's the question parents ask in the first moments of a new life, right after they seek reassurance that their baby is healthy. Questions don't come much more basic but the answer is more complex than you might think.

For centuries, it seemed simple. Men had male genitals; women female ones. This didn't do for those who fell between but science seemed to lend a hand when in about 1905 it came up with a way of telling the sexes apart that went beyond appearances, in fact into our cells. Men had XY chromosomes; women had XX.

That's about where the thinking stayed until in 1990 researchers studying people once labelled hermaphrodite - but today more accurately described as intersex or as having disorders of sexual development - made a significant discovery.

They found that a hitherto unknown gene, SRY, was needed to start the process of "maleness". What the discovery of Sex-determining Region, Y-chromosome - to give it its full name - did was reopen the gender puzzle. Assuming that chromosomes determine sex was no longer enough. Much more was going on.

The holy grail is finding an indisputable dividing line between male and female. It probably doesn't exist. It is not the body, as inter-sex children make clear.

One in 2000 babies are born with mixed sexual anatomy - often external genitalia that are ambiguous such as a phallus that looks somewhere between a penis and a clitoris, or a divided scrotum that looks more like labia.

Then there are those whose chromosomes don't match the usual XX or XY pattern.

Research by American intersex expert Dr Milton Diamond suggests that those who have some biological variance from the standard male or female may be as high as one in 100.

Most have normal looking sex organs and only discover they are different when they try to have children. Or, in the case of South African runner Caster Semenya, when they win a world women's championship and because of their masculine appearance, are required to undergo a sex test.

Are they male or female? The biology does not always make it clear.

The way doctors respond to such cases has changed from the 1960s when often the practise was surgical intervention - as advocated by New Zealand psychologist and sexologist, the late Dr John Money.

The US-based Money believed that nurture was more powerful than nature and that if you look like a girl and are raised as a girl then you will be a girl.

His view, which prevailed on the east coast of the US, was patriarchal, in that the concept of a female revolved around fertility while for males the issue was the penis. If a child had a very small penis that wasn't thought to be functional and looked abnormal, gender would be reassigned to a girl and phallus and testes removed.

Money became a figure of controversy when a case that he claimed vindicated his approach was found to do no such thing.

In what became known as the "John/Joan" case, David Reimer was born a normal identical twin boy. A botched circumcision at age eight months resulted in much of his penis being burnt off. On the advice of Morrinsville-born Money, Reimer's parents agreed to have his sex "reassigned" via surgery and hormone treatment.

It emerged that, contrary to Money's claims, Reimer had never identified as female. At age 14 he refused to see Money again and his parents decided to tell him the truth about his past. Reimer ended the hormone treatments he had received throughout his life to stimulate female traits, changed his name from Brenda and began taking hormones to bring about the male puberty prevented by the removal of his testes. He married but did not have children, and his story ended tragically with his suicide at 38.

A big part of the difficulty for intersex people is that society don't deal well with those who are different. We gawk, we snigger, we hide it away and - particularly in the era Money worked in - we try to "fix" it. An example of that lack of sensitivity to difference is Joseph Merrick, the so-called Elephant Man who became a sideshow curiosity in Victorian times. Another is television presenter Paul Henry's recent "lady-with-a-moustache" comment.

The truth is that the difference between the sexes is a continuum.

Paul Hofman, clinical director of paediatric endocrinology at Auckland University's Liggins Institute, speaks for those who work with intersex people when he describes the public discussion of Semenya's case as "the worst kind of voyeurism".

"These people suffer," he says. "You only have to meet a few to know they really struggle. It's not only them not knowing where they fit but they get brutalised by a society which doesn't know where they fit."

The surgery that went on in Money's time was, "in retrospect, an incredibly unfortunate and ultimately destructive thing to do psychologically for these kids". Now, when a child presents with ambiguous genitalia, the most important thing is to talk to the family, says Hofman.

It is still important to assign a gender simply because society doesn't accept a third sex. And in most cases it is not difficult.

"We have a long talk to the family, explain that there are a number of tests that we will get done urgently. When we get the results we explain what we think is going on."

There are a range of tests but the main ones are an examination of the chromosomes, an ultra-sound scan of the lower abdomen and assays of hormones.

Whether a child is XX or XY doesn't alone determine whether it will be raised as a girl or a boy. The presence or absence of a uterus is more telling because the presence of a uterus means there is no functioning testis needed to secrete testosterone.

There are half a dozen categories of disorders, each with multiple causes. If the genes involved are taken into account, there may be more than 100 unique disorders.

"Most of the time it is clear-cut," says Hofman, "and we can says this is a girl or this is a boy."

Most cases involve an under-masculinised boy, an XY, where the testes have formed but for some reason the testosterone hasn't been released appropriately, or hasn't been able to dock with the receptor. Or an over-masculinised girl, an XX, who has ovaries but has been exposed in the first three months of life [in the womb] to excess male hormone.

This can come via the mother or a malfunction of the baby's adrenal glands.The boy will likely permanently have a small penis but both will potentially be fertile.

Other examples are an XY child with completely female external genitalia, who may or may not have a testis - "a child who has for all intents and purposes not been exposed to male hormone but is XY". Though such an example is intersex because of the Y chromosome, Hofman says, as far as determining sex goes, she is clearly female.

In rarer cases, identifying or assigning sex is much more difficult. These include those who may be XY, have no testes or have ovaries and testes.

Another is where a genetic abnormality has resulted in testosterone only partially taking effect, meaning partial development of external male genitalia.

In the past they would have been surgically made into girls but it is now understood that the brain is sensitive to even small amounts of testosterone and these people are very often male in their gender orientation.

"There is no right answer for these people and that is the problem," says Hofman. "They will be different and the question is do you try to make them into girls as John Money did in order to try to make them less different [physically]?'

The answer, in New Zealand and most of the west is, "no". The reason, says Hofman, is it is realised that they know they are not normal girls and empirical evidence shows they consequently become angry and some have problems with drugs and the law.

Removal of the gonads or reconstructive surgery involving tissue that cannot be replaced later is not recommended, even though parents sometimes want it.

Hofman says it is explained to parents that intersex people often grow up resentful that they did not get the opportunity to be involved in the decision and it is best to wait until they can be.

That advice is not always accepted. "Several times I have pleaded with parents to have a heart-to-heart with their child who is in their teens and who knows they are different," says Hofman, "and the parent has refused because they have issues of their own."

For medics the best policy is to be open and honest. "There are some times in life where there are no easy answers."

CAUGHT IN THE MIDDLE

Mani Bruce Mitchell learned the truth after she found her Plunket book following her mother's death.

Her mother had cut out sections, presumably to erase anything that contradicted the decision that had been made to live by the fiction that Mitchell had always been a girl.

But a few telling passages remained, Mitchell told Radio New Zealand last year. "Nice wee lad" said a notation at age four months. "Seen by doctor ... sex determined as female, one year old" said another.

Her parents, good rural folk, did what they thought best for the child they had raised as their son for the first year. So did doctors. Mitchell had genital surgery at age eight. Other operations made her ears smaller and feminised her face.

As a teenager she dealt with her ambiguity by burying it. Driven by love for her "two wonderful parents" she tried to be the "normal girl" they wanted her to be.

"For most of my life, I would say I was a woman and then get very nervous inside and not be able to understand where that nervousness came from."

After finding her Plunket book, Mitchell, a teacher, manager and counsellor, attended a retreat in the United States for intersex people where she met people similar to herself and decided, at age 40, to live openly as an intersex person and do what she could to "break the silence, secrecy and shame" that has surrounded being between the sexes in a binary world.

Mitchell, who is executive director of Intersex Awareness New Zealand, says it is negative attitudes towards difference that does that damage rather than the damage itself.

She is the subject of an award-winning documentary, Black and White, and posed with a black rectangle obscuring her eyes for an exhibition and book by photographer Rebecca Swan, called Assume Nothing.

"That's how intersex people are portrayed in medical texts", she explains. "I had had to lie naked in front of medical people as a young child. This was a way of having my body on view but on my terms."

On the web: www.ianz.org.nz