Two cases demonstrate diagnostic challenges and management of Turner syndrome with Y chromosome material, suggesting further vigilance.
Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete monosomy X. The presence of Y chromosome material, particularly the sex-determining region Y(SRY) gene, has important clinical implications due to the increased risk of gonadoblastoma. We report two cases of young women with Turner syndrome harboring Y chromosome material detected by fluorescence in situ hybridization (FISH), illustrating the phenotypic variability, diagnostic challenges, and therapeutic management, particularly regarding prophylactic gonadectomy.
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K et al. (2025) studied this question.
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