Gonadal tumors in patients with gonadal dysgenesis and sex chromosomal rings and fragments

Theodore Nagel, Mauricio Camargo, George Tagatz, Takashi Okagaki, Jaroslav Cervenka, Linda Cahill, Stephen S. Wachtel, Richard King, Leo B. Twiggs

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)76-82
Number of pages7
JournalAmerican journal of obstetrics and gynecology
Issue number1
StatePublished - 1984
Externally publishedYes

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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