Abstract
Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors. Gonadoblastoma, a mixed germ cell and sex-cord cells tumor with variable degree of focal calcification, is the most harmful due to its frequency. Other gonadal tumor, malign or not, also occur in gonadal dysgenesis. As they are not metastatic tumors and may be eradicated by selective excisions, the importance of detecting Y-sequences by molecular sensitized techniques is stressed in order to indicate prophylactic gonadectomy.
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