ANDROGEN INSENSITIVITY SYNDROME IN THE ERA OF MOLECULAR-GENETICS AND THE INTERNET - A POINT-OF-VIEW

The era of molecular genetics has seen the discovery of a great deal o f scientific information about the androgen receptor (AR) and about th e many AR mutations that have been identified in patients with Androge n Insensitivity Syndrome (AIS), In families with well-characterised mu tations, carriers can now be identified and prenatal testing can be of fered, An unexpected finding is that an AR mutation also causes X-link ed spinobulbar muscular atrophy, The intersex community has establishe d two influential support groups, the AIS Support Group (which has bra nches 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 a ssist the medical profession to develop better approaches to the manag ement of intersex disorders, a collaborative approach is likely to be mutually beneficial for patients and physicians, ISNA has alienated ma ny doctors by advocating a radical approach, namely that surgery shoul d not be performed to (correct) ambiguous genitalia until the individu al is old enough to express a gender preference, Many children born in developing countries have either no genital surgery to correct ambigu ity, or surgery is carried out very late, Long term outcome studies, c arried out in developing countries and sensitive to the cultural backg round, would provide information on how non-Western societies can acce pt genital abnormalities that would be considered unacceptable in the West.