The genetics of intersexuality: clinical and theoretic perspectives

Recent studies using newly devised serologic techniques have dramatically advanced our understanding of gonadal organogenesis and aberrant sexual differentiation. Thus XY gonadal dysgenesis, XX male syndrome, and XX true hermaphroditism, for example, may be seen as typifying specific errors of regulation, synthesis, or function of a phylogenetically conserved plasma membrane component heretofore recognized solely as the male-specific transplantation antigen of mice. This report seeks to convey the excitement of these recent studies, and to provide the clinician with new and useful insights into the fundamental mechanism of primary sex determination.