Dilemmas when gender is uncertain

By O'Rourke, M. The Weekend Australian. March 19-20, 2005.

When the midwife passed Andrew and Megan O'Brien their new baby, they were thrilled to notice that he was a boy, even though an earlier ultrasound had foretold a girl.

Their only concern was that they couldn't think of a name for him.

But a few days later, after tests, the baby was diagnosed with congenital adrenal hyperplasia (CAH) – a condition where the baby's adrenal glands overproduce a male hormone before birth, causing "virilisation" of the genitalia and making a baby girl look like a boy.

"I was in a state of shock. First I found out that my baby had a medical condition and would have to take medication three times a day for the rest of her life, and also that the baby was actually a girl," says Megan.

The O'Briens – not their real names – called their baby Freya, and began the difficult task of explaining the change to friends and family.

"I had to contact people and say, 'You know our new baby boy, well she is actually a girl'. People took it pretty well. It must have been a bit confusing because most people have never heard of a condition like this, but they all seemed to cope."

On average one child is born each week in Australia with an "intersex" condition, in which the baby's genitals are neither clearly male nor female.

A recent paper in the British Medical Journal (2005;330:340-1) says that despite concerns, women with CAH "do not show substantially increased psychiatric disorder or deficits of social adjustment". But it says how best to manage people with intersex conditions remains controversial among doctors, and more research is needed about which treatments and surgical approaches maximise good psychological outcomes.

Many different conditions can cause intersex, and people can be affected in many different ways.

For instance, it is possible to have the chromosomes of one gender but the genitals of another; or a child may be born with both male and female genitals. Needless to say, parents are often traumatised by the situation.

"There is no question that parents suffer considerably from the shock of having a baby of uncertain sex," says Garry Warne, associate professor and senior endocrinologist from the Royal Children's Hospital, Melbourne.

"They typically speak of grieving for the normal child they expected to have, of shame that prevents them from telling anyone about the baby's problem and anxiety about the baby's future."

There is often pressure on the doctor and parents to decide the appropriate sex for the child. In some conditions the "true" sex of the child becomes obvious after testing, as with CAH.

However, with other conditions it comes down to a decision by the parents in consultation with doctors.

The consequences of choosing the child's gender are immense.

Previously, it was thought best to choose the child's sex according to whichever would give them the most functional genitals.

Current opinion seems to be that a person's gender is determined by a complex mix of chromosomes and sex hormones, particularly during pregnancy and that exposure to sex hormones in the early months after birth is also linked to gender identity.

One possibility is not to choose a sex for the child straight away.

However, Warne says that bringing up children with no gender is "not a popular option with parents". "On the contrary, most parents wish to assign a gender as soon as possible," he says.

Tony Briffa, vice president of The Androgen Insensitivity Syndrome (AIS) Support Group Australia, agrees. "I don't believe that anyone should be brought up as an 'it'," he says. "However, the real question is about parents and doctors using irreversible surgery and hormone treatment on a child who is too young to give consent."

Warne says that there has been a view that no male with a "micro penis" – defined as one less than 1.9cm long at birth – could possibly be happy, and that as long as a girl had a vagina everything would be all right. As it is surgically much easier to make a child female than to make a child male, it was more common to choose the female sex for a baby with ambiguous genitalia.

However, it became apparent that some babies later identified as men and were unhappy about the irreversible surgery that had been performed.

Endocrinologists like Warne now recommend bringing up a child with male chromosomes, but ambiguous genitalia, as a boy. Every bit of skin and tissue is thus conserved and later opportunities for the patients are maximised.

"If the parents and the doctors were wrong and the child grows up identifying as female there is always the option of surgery then. However if the child is assigned a female gender then male tissue is removed and it is surgically very hard to create again," Warne says.

Parents are also told that there is a point of view that babies should not be operated on, and that the decision should be deferred until the child is old enough to decide.

In the case of Freya O'Brien the decision was more straightforward. Freya had normal female chromosomes, and normal female fertility.

The standard treatment is to provide surgery at an early age to make her look like a normal little girl.

The O'Briens had also been to an intersex symposium and had the opportunity to speak to teenage girls who had undergone surgery.

"The technical side of the surgery has improved and the research is showing much better results than in the past," says Freya's mother.

However, some patient advocacy groups are critical of some surgical interventions.

Tony Briffa was born with normal male chromosomes, and normal levels of testosterone. But because his body did not respond properly to the hormones, his genitalia failed to form properly. As was common practice at the time, his parents were advised to raise him as a girl.

Briffa says parents and doctors have no right to perform irreversible surgery and hormone treatment on a child. He believes decisions should be made by the Family Court, not doctors and parents.

"It seems that children with intersex conditions are considered grossly defective and therefore they don't have any rights and doctors can do what ever they want with them."

Warne's view is that in other countries, "children left with ambiguous genitalia are stigmatised, abused and made to feel like freaks".

While this is a complex matter legally, Warne thinks parents do have the right to make decisions on behalf of their child if they believe the course of action is in the child's best interests. He also advises parents to tell their child about their condition, in contrast to previous thinking where patients were told nothing and became confused and angry.

"We advocate telling the child everything. I think we have actually pioneered this to a certain extent. We tell the child all about their condition when they are about 12.

"A child who is about 12 is able to philosophise in an abstract way and understands concepts like chromosomes and how things contribute to a person's sex. It is also before the age when they are working things out themselves."

Freya is now a gorgeous two year old. Megan O'Brien remembers that "the funny thing was we could never think of a name for her during the time we thought she was a boy. But as soon as we knew she was a girl we named her straight away."

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