Few areas of medicine are as controversial as the management of disorders of sex development (DSD). The use of the term DSD to describe patients born with ambiguous genitalia has undergone major change from older terms with negative connotations, such as “intersex”, “testicular feminisation” and “hermaphroditism”.1 Meanwhile, international debate continues about the ethics of performing genital surgery on affected infants and children. In fact, the debate has been raging for more than a decade between the medical profession and patient advocacy groups in Western countries, and has been documented by anthropologist Katrina Karkazis in a recent book.2 A long-term outcome study of 50 patients aged 18–32 years who had been treated in Melbourne when they were children showed that mental and physical health outcomes were as good for most of the DSD patients as for those in two control groups; however, there was a small minority of patients whose gender identity as adults was a source of such profound discomfort that they felt compelled to undergo treatment to change it.3 Clearly, this is unsatisfactory, and management practices have been reviewed internationally by clinicians looking for ways of minimising the risk of making such mistakes about gender assignment.

The main problem relates to feminising genitoplasty (Box), which involves the removal of phallic erectile tissues and skin that cannot be replaced. This type of operation is considered appropriate for 46,XX girls with congenital adrenal hyperplasia (Box), who rarely identify as male when they are adults if they are treated with appropriate hormones to maintain androgen suppression from soon after birth and throughout childhood.4 However, feminising genitoplasty is much more of a problem in patients with a Y chromosome. For example, in one study of 14 adult patients with genetically confirmed partial androgen insensitivity who were treated at Johns Hopkins University in the United States as children, 25% experienced gender dysphoria (Box) as adults, and a small number wanted to undergo sex change surgery.5

Although policy changes are still being discussed, it seems likely that fewer and fewer XY patients with frankly ambiguous genitalia due to DSD will have feminising genitoplasty and be raised female. The option to assign a gender but postpone surgery until the child is able to give consent has been strongly advocated in some quarters,6 but has not gained much traction because of concerns that children might suffer psychological harm if left with ambiguous genitalia. In 2008, clinicians from Melbourne’s Royal Children’s Hospital, recognised for their expertise in the management of DSD, were required to meet representatives of the Victorian state Justice Department. They were asked to respond to a proposal — advanced by an advisory committee representing the interests of the gay, lesbian, bisexual, transsexual and intersex communities — that doctors wanting to perform surgery to treat ambiguous genitalia in children too young to consent on their own behalf should have to seek approval from the Family Court of Australia on a case-by-case basis. Also in 2008, the Australian Human Rights Commission decided to initiate a public inquiry into the same question, and circulated a draft discussion paper called Genital surgery for babies born intersex to health professionals for comment. Thus, in Australia as elsewhere, the arm wrestle between medical professionals and patient advocacy groups continues.

What has largely been missing from the debate is recognition of the fact that surgery forms a necessary part of the risk management strategy for preventing gonadal malignancy. In any DSD associated with a Y chromosome, there is an increased risk of germ cell cancer,7 especially when the testes are intra-abdominal (the risk of seminoma in partial androgen insensitivity is 50% for an intra-abdominal testis) or when there is gonadal dysgenesis. In this issue of the Journal, a salutary case report by Parker and colleagues8 reminds us of the need to be mindful of this risk, and also to take a long-term view of risk. If the intra-abdominal gonad in the patient described had been removed at the initial surgery, he would never have needed to fear this tumour. It had not been removed because, by today’s standards, he had been inadequately investigated in the past, and therefore the intersex condition was not recognised.

The trend for surgeons to recommend male-sex rearing for greater numbers of children with DSD could also mean greater reluctance to remove testes that pose a significant risk of cancer on the grounds that physiologically useful hormone secretion might be retained. It is therefore imperative that a risk management strategy be prepared for each patient. This would mandate:

• educating parents and patients about risk;

• removing all intra-abdominal gonads that cannot be brought down into the scrotum;

• regular clinical and ultrasound surveillance of scrotal gonads with removal of any that contain suspicious lumps;

• biopsy of testes after the onset of puberty, looking for early signs of malignant change; and

• effective communication between paediatric and adult care-providers at the time of transition.

It is also important for all children identified as having DSD to be referred to a centre of excellence where they will be seen by paediatric endocrinologists, surgeons and other health care professionals with expertise in the field and who recognise the importance of a multidisciplinary team approach.9 Case conferences about patients diagnosed as having a DSD in adult life would be enhanced if paediatric specialists in DSD were asked to comment.

Of equally great importance is the need for an accurate aetiological diagnosis wherever possible. At the moment, about 40% of patients with 46,XY forms of DSD are left without a precise diagnosis.10 The application of microarray (gene chip) technology,11 which is available in Australia, is an exciting and promising step forward in identifying genetic mutations. In this technique, samples of very large numbers of genes are arranged in a regular pattern on a solid surface or membrane, which is then incubated with DNA from a patient. Alterations in known (and even unknown) genes are rapidly detected by studying patterns of matches and mismatches. The current challenge for researchers is to develop new tools, such as microarray technology, that will lead to gene discovery and to better methods of screening patients for mutations in all the known genes.