Gonadal dysgenesis

Abstract

The spectrum of patients with gonadal dysgenesis has expanded over the last decade to include cytogenetically normal individuals. Comprehension of the etiology of gonadal maldevelopment in these patients remains tenuous. More careful study of pedigrees involving 46, XX and 46, XY gonadal dysgenesis may provide better understanding of the mechanism of ovarian failure in these individuals. An important approach will be to identify other disorders occurring in conjunction with primary ovarian failure that can serve as genetic markers for linkage studies. The next decade must provide information that transcends gross structural alterations in sex chromosomes.