Androgen insensitivity syndrome in the era of molecular genetics and the Internet: a point of view.

Abstract

The era of molecular genetics has seen the discovery of a great deal of scientific information about the androgen receptor (AR) and about the many AR mutations that have been identified in patients with Androgen Insensitivity Syndrome (AIS). In families with well-characterised mutations, carriers can now be identified and prenatal testing can be offered. An unexpected finding is that an AR mutation also causes X-linked spinobulbar muscular atrophy. The intersex community has established two influential support groups, the AIS Support Group (which has branches in the UK, North America and Australia) and the Intersex Society of North America (ISNA). It is ironic that at a time when advances in biomedical science regarding AIS are a source of pride, these support groups are accusing the medical profession of having ignored the real needs of patients with AIS. Since the support groups are willing to assist the medical profession to develop better approaches to the management of intersex disorders, a collaborative approach is likely to be mutually beneficial for patients and physicians. ISNA has alienated many doctors by advocating a radical approach, namely that surgery should not be performed to 'correct' ambiguous genitalia until the individual is old enough to express a gender preference. Many children born in developing countries have either no genital surgery to correct ambiguity, or surgery is carried out very late. Long term outcome studies, carried out in developing countries and sensitive to the cultural background, would provide information on how non-Western societies can accept genital abnormalities that would be considered unacceptable in the West.