What question did this study set out to answer?

This research aims to explore the implications of the SRY gene and Y chromosome material in Turner syndrome.

January 24, 2026Open Access

Turner Syndrome and the SRY Gene: Report of Two Cases

Key Points

This research aims to explore the implications of the SRY gene and Y chromosome material in Turner syndrome.
Reviewed two cases of young women with Turner syndrome
Used fluorescence in situ hybridization (FISH) to detect Y chromosome material
Analyzed phenotypic variability and therapeutic management options
Both cases exhibited Y chromosome material linked to the SRY gene
Identified increased risk of gonadoblastoma in patients
Discussed the necessity of prophylactic gonadectomy to mitigate risks

Abstract

Abstract 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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