Advances and challenges with intersex disorders

Abstract

Many recent advances have come from basic research into the mechanisms of sexual differentiation. These include the discovery of a number of genes (SRY, WT-1,SF-1, SOX-9) and one locus (DSS) involved in human gonadal differentiation, and understanding gained from extensive studies of the androgen receptor and its gene. The challenge for the clinician is to learn how best to use the new tools that have become available as a result of these advances. At the same time, community-based organizations whose members are adults with intersex disorders are issuing a challenge of a different kind: that the medical profession should radically revise its thinking on some of the most fundamental issues to do with treatment. The opportunity to take a fresh look at our policies in collaboration with well-informed patient groups is an advance as well as a challenge. Further research on both the origins and outcomes of intersex conditions promises to greatly improve the lives of affected people.