Abstract
Patients with female phenotypes and dysgenetic gonads harboring testicular tissue have a markedly increased risk of developing gonadal tumors. Cytogenetic demonstration of Y chromatin is the currently accepted criterion for performing prophylactic gonadectomies in these women. We studied four patients with dysgenetic gonads containing either testicular tissue or germ cell tumors. All had small sex chromosomal fragments which could not be characterized by conventional cytogenetic studies. Clinical features, DNA replication studies, and immunologic assays of Xga and H-Y antigens failed to correlate consistently with the gonadal histology. We recommend prophylactic gonadectomies and subsequent hormone replacement in all patients with female phenotypes, gonadal dysgenesis, and cytogenetically indeterminate sex chromosomal fragments.
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