Marker chromosomes in gonadal dysgenesis: Avoiding unnecessary surgery

Women with partial or intact Y chromosomes are at increased risk for developing gonadoblastoma or dysgerminoma; prophylactic gonadectomy is usually recommended. However, some women with gonadal dysgenesis have marker chromosomes which can complicate assessment and management. To evaluate a young woman with gonadal dysgenesis and a 45,X/46,X, + mar karyotype, we used a direct assay for H-Y antigen and, in addition, polymerase chain reaction (PCR) and in situ hybridization with X- and Y-specific DNA probes. The marker chromosome was found to be an X chromosome derivative indicating that the patient was at low risk for tumor formation. The technology presented is useful for assessing the risk for tumor formation in women with marker sex chromosomes.