The Hidden Gender
Boy or girl? This is one of the first questions new parents are asked. But sometimes it's not so clear. About one in 45,000 children are born without a clearly identifiable sex. Doctors, patients and parents are faced with huge dilemmas when they have to make the choice - boy or girl. At what stage in the child's life should the choice be made? And does the choice have to be made at all?
At the core of the debate is surgery on babies and very young children. For decades, this has been conventional medical practice for children born with sexual organs that are in between male and female. It sounds barbaric, and patient groups and some surgeons are calling for the practice to be stopped. They say surgery should be delayed until the child is old enough to consent.
But surgery or no surgery is not the only issue. Intersex conditions include a wide variety of internal and external, genetic and hormonal characteristics. Many aren't visible at birth. And every individual affected is unique.
Chris Somers is considered an intersex person. A Perth based photographer doing postgraduate studies in education, he/she sees himself as an androgyne which is neither male nor female but a complex mixture of all. "I developed breasts when I was about 13 years old, and had a bilateral mastectomy when I was 16-1/2, not because I wanted to, but because society out there would not accept me," Chris says. In spite of the early surgery, Chris only got a diagnosis at age 27, when in hospital with an unrelated illness.
The Different Conditions
The medical staff carried out a karyotype - an analysis of the genetic structure of the body - and found that Chris had 47XXY chromosomes, Klinefelter's Syndrome.
Because people with Klinefelter's Syndrome have an average size penis and - unlike Chris - most people with Klinefelter's identify unambiguously as men, many wouldn't call it an intersex condition. Often they don't know about their genetic makeup until they try and have children and find they're infertile. Most have lower than average testosterone levels, but it's not always visible. There's a lot of variety in how the genes are physically expressed.
Some of these conditions, unlike Chris's, are revealed when a baby is born,with genitals that aren't obviously either male or female. About one in every 4,500 babies are born this way, according to Associate Professor Garry Warne, an endocrinologist and hormone specialist at Royal Children's Hospital in Melbourne. In Victoria, he sees about one a month.
"I might be called to a maternity hospital where a baby has been born, and no-one in the room is able to tell what the sex is," he explained.
"The penis might be too small to be really called a penis, there might be a cleft but not one that would be typical for a girl, the urinary opening might be in the wrong place for either a boy or a girl, and perhaps we can feel either no testes at all, or perhaps one testis."
The term 'hermaphrodite' technically means someone who has both ovaries and testicles. This is quite rare, and doesn't reflect the huge variety of intersex conditions.
Congenital adrenal hypoplasia is a condition where the genitals look atypical on the outside. There are a number of causes, the most common one an altered gene that causes the adrenal glands to over-produce a male hormone, and if the baby is a genetically female baby, she'll be born with masculinised genitalia.
Gonadal dysgenesis occurs when there's a mixup of the chromosomes, and some of the cells in the body contain male chromosomes, and some of the other cells have a missing X-chromosome. In that situation the gonads don't differentiate properly into either ovaries or testes, and they may produce a bit of male sex hormone and cause some development in the male direction, but it's not completed.
Androgen insensitivity syndrome, or AIS, is when the baby is genetically male, XY, and able to produce testosterone, but the tissues don't respond to it. This can be complete, so the baby looks female but has no uterus, or partial, with ambiguous external organs.
For parents, it's a shock when their baby is born.
The Parent's Dilemma
Occasionally, intersex conditions are diagnosed before birth, through amniocentesis, or occasionally, by an ultrasound. For example, a screening check of Down's Syndrome might pick up the extra X chromosome that occurs in Chris' condition, Klinefelter's syndrome.
This raises the issue of what to tell parents that might affect their decision about whether to have the baby.
Last year a British study found that some parents who talked to doctors and nurses, before or instead of a genetic counsellor, were given misinformation about Klinefelter's, for example that their baby would be mentally retarded. In fact the evidence suggests a very small lowering of average IQ, which often won't make a difference in day-to-day life.
"The message is clearly that we need more genetic counsellors, and they themselves need more specific training," said Associate Professor Warne.
The first question asked after a birth is - boy or girl? And when there is no definite answer to that, problems that parents have are confusion, guilt, sadness, anxiety about how they will relay this problem on to their family and their friends outside the hospital, and also fears about what that might mean for the future.
Just how traumatic it is for parents depends on how they're told, according to Associate Professor Warne.
In the past, some patients weren't told of their condition for years, sometimes not at all. These days there's more openness, which is important not only ethically, but because of ongoing health issues, like an increased risk of cancer and osteoporosis.
There's still a lot of disagreement about what determines gender identity: whether someone feels male, female, or a bit of both. But whether or not a child has surgery, most patients, and doctors, still agree that a child should be labelled as one or the other, boy or girl, because gender in our society is so central to how we relate socially.
"If you bring someone up as a boy, or you're bringing someone up as a girl, they simultaneously are learning the other gender as well, and it makes the ability to switch or be neutral, easier when you're an adult," explained Dr Milton Diamond, Professor of Anatomy and Reproductive Biology at the University of Hawaii.
Professor Diamond recommends that parents are open about the condition. "I think it's not something to be shameful, they have not been bad parents, this is a biological variation that occurs. If they start dealing with it in shame, that shame is transmitted to the child, and the child grows up with shame for something that he or she did not do."
The Royal Children's team thinks that parents have to decide for themselves what they tell people. They say that parents should be given full information about the child's condition, and told that not having surgery is a valid option. If surgery is chosen, they believe it should be left to a small number of expert surgeons, maybe just three or four nationwide.
Whatever happens, they believe that good psychological and social support is crucial.
The Argument for Early Surgery
Knowing that everybody will be asking, "boy or girl?" puts enormous pressure on parents and doctors to decide things one way or the other. And for many years, conventional practice has been to operate while the child is still a baby.
"The theory was that children come to know who they are, as male or female before the age of two," explained Professor Diamond. "They also were trying to placate the parents, and often it quite disturbed them, they want children that look normal, so they say 'Doc, what can we do?' and the doctor has an easy solution for a difficult problem."
The thinking behind early surgery is that it's important, socially and psychologically, to create a clear gender identity.
Because it is easier to construct a vagina than build a functioning penis, most children were 'made into' a female.
Until the late '60s or so, surgery for say congenital adrenal hyperplasia usually involved almost complete removal of the enlarged clitoris. Since then, better techniques have been developed that preserve as much of the sensitive tissue as possible, but there are few long-term studies on how successful they are.
Dr Sonia Grover is a gynaecologist and a member of Garry Warne's team at the Royal Children's Hospital in Melbourne. She treats older girls with intersex conditions at the Hospital's Centre for Adolescent Health. She thinks that some of their problems are not because they've had surgery, but because less experienced surgeons have sometimes done the work. And it shows.
"How the vaginal opening area is corrected seems to be one of the biggest problem areas," she said. "How the clitoral reduction has been done and where it ends up being sited, the labia majoris or the big lips are often wrinkly in kids who are born with ambiguous genitalia and if the surgery's done well then the wrinkly appearance can also be corrected."
"I can imagine that the women with those outcomes will be having uncomfortable intercourse because the vaginal opening is inadequate with a bridge of skin partly obstructing the way, no wonder it's painful."
Dr Grover believes that surgery might be more successful if it is done in children rather than at a later age, because the patient is smaller. "It's not necessarily easier for me to make the corrections that I've watched the paediatric surgeon here in Melbourne do with relative ease in little children," she said.
"I'm also conscious that it's counter to what other people are saying elsewhere in the world, that we shouldn't be doing it on little kids, and we should be doing it when they're older. I'm not sure. I'm not sure that I'm failing in terms of sexual function outcome but I feel like I have to work much harder to get a good outcome than the paediatric surgeon, John, who does it as a baby," she explained.
Dr Grover says she sees good outcomes in children who have had early surgery, but she is aware that there are other substantial factors that influence outcome. Children who have had early surgery spend their childhood having their genitals examined which can have a profound effect on their attitude towards sex.
"I've had some of my young women who are now in their early 20s who've said to me, 'Look, having sex is a bit like having a medical examination. You lie there with your legs open.'," she explained. "If you feel lousy about your body, if you're convinced your body is abnormal, then you're not going to be relaxed when you're having intercourse."
There are also medical reasons for early surgery in some cases. Women who have XY material in their gonads, have an approximately 30 per cent risk of malignancy by the time they're about 30 years of age. If there's a tumour, it ends up with a cancer that can kill.
"So for that group, it's very clear-cut," said Dr Grover. "Again, there's room for debate about the women who have got androgen insensitivity syndrome. The risk of those gonads, those testes, becoming malignant, is far, far lower, so the need to remove the gonads in that group is not as urgent."
"If our study shows that the vast, vast, vast majority of people are in fact happy with the gender alignment that is given to them, then I'd actually ask the question 'Well of the few that we've made the wrong gender assignment to, could we have retrieved that situation earlier, but how different is the rate of that occurring to trans gender, transsexual issues occurring in the rest of the population?'," argues Dr Grover.
In our society we tolerate that some males feel like women inside. "So we should, and I think we need to have the broad-mindedness and openness to do the same in our patients with medical conditions," she said.
The Argument for Delay
So if early surgery isn't the answer should we delay? Milton Diamond, and a number of intersex patient advocacy groups in the United States, the United Kingdom, and Australia, have called for a moratorium on paediatric surgery unless it's needed for good medical reasons. Otherwise, they say, it should be delayed until the child is old enough to consent.
" These are cosmetic surgeries, they're not medically needed. It's the individual that has to live with those genitals then he or she may not like what's been constructed for them, and that's what happens. These people, when they become adults, complain that they've had their genitals restructured in ways that they don't approve of," said Professor Diamond.
Dr Grover agrees because the removal of gonads, the testes or ovaries, means they also remove their capacity to produce hormones, which raises issues of non compliance amongst teenage groups
"They don't take their medications, because it's part of growing up, being dependent, rebelling. So for people with androgen insensitivity syndrome who've had their gonads removed at an early age, we need to make sure that they're taking their hormones during their adolescent years, and it's a very critical time, because during your adolescent years, is when you're making your bones strong, and if you don't have oestrogens around at that time, then you end up with osteoporotic bones," said Dr Grover.
Even for older children and adults, consenting to surgery is not a simple issue. Chris Somers' father, who was in fact a doctor, did ask Chris whether she/he wanted the mastectomy.
"He said, 'Well look, Chris, we can do something about this if you wish.' I said, 'I don't really wish it at all, but how am I going to live in a society that is not going to accept me with my breasts and my penis'. So I therefore decided, in order to survive without perhaps becoming a suicide case, that the only way for me was to conform," explained Chris.
The experience has left its mark on Chris' artwork. "In a number of my images one will see the human breast is constantly referred to. If you like, it is a celebration of that which I lost and it is also a celebration of the feminine within me, and trying to regain that part of the equation."
Chris wishes she/he had had a choice of oestrogen instead of testosterone, or as well as it. And would like to see Australia set up a major research treatment and education centre with an embracing view of sex and gender.
"And at birth, I would also like to see that the medical profession is not too quick to whip out the scalpel and rearrange the child that does not fit their pre-existing position of what a human is supposed to be or look like. There is far too quick decision made to rearrange us into the format that they presume is the correct one, when in fact it may precipitate a disaster."
Professor Diamond's recommendations to delay surgery have not been adopted wholesale by the medical profession. At first, it's hard to understand why not. Except when surgery is needed to prevent, say, recurrent urinary tract infections, and apart from the difficulty of growing up different, why shouldn't kids be left physically intact so they can later more easily change their minds about their gender, if they wish?
The bottom line is that we don't have good enough research to make good decisions. The studies that have been done suggest most intersex people are satisfied with the gender they were assigned, though maybe not with their equipment.
But research in this area is difficult. You need long-term studies, patient numbers are relatively small, and bad past experiences mean that many, understandably, are unwilling to participate.
The team at Royal Children's, along with researchers from the Murdoch Children's Research Institute, are about to embark on their own study. "Our plan is to try to follow up every single patient that was treated in one hospital, the Royal Children's Hospital in Melbourne, over the past 30 years," said Professor Warne.
"We want to find out from them how many are satisfied with the outcome, how many are not, if they're not, what are the reasons and also to find out what could we be doing more in terms of establishing services for adults that would make life better for those people now."
Published 09 May 2002