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Sultana MH Faradz
Center of Biomedical Research, Faculty of Medicine, Diponegoro University Center of Genomic Research, Universitas YARSI
Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

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Detection of TSPY Gene in Turner Syndrome and Its Variants Tuntas Dhanardhono; Agustini Utari; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 12, No 2 (2026): August 2026
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v12i2.31127

Abstract

Background: One X chromosome deletion, either total or partial, is linked to the uncommon disorder known as Turner Syndrome. This condition frequently results in mosaic karyotypes. Conventional cytogenetic approaches for karyotype analysis may fail to detect low–level Y chromosome mosaicism. The use of molecular analysis as a foundational technique to evaluate Y-chromosome segments in patients with Turner has increased. A cell line with a Y-chromosome is present in approximately 5% of the patients, which is undetectable by the standard cytogenetic analysis. Molecular detection of TSPY (Testis Specific protein Y-linked) gene located at Yp11.2 has been done to detect chromosome Y materials and had been used to predict the risk of gonadoblastoma.Objective: To identify TSPY gene in patients with Turner Syndrome and its variants.Methods: DNA samples from 22 Turner Syndrome patients were undergone PCR amplification to detect TSPY gene.Results: There were 13 (59%) patients with 45 X and mosaic X karyotypes, while TSPY gene was not amplified. There is no hidden Y chromosome constituent was found. The remaining 9 (41%) patients had mosaic 46,XY. TSPY gene was able to be detected and amplified.Conclusion: PCR analysis show no hidden Y chromosome in monosomy X and mosaic 46,XX groups. Identification of TSPY gene by molecular analysis offers an applicable and challenging management. This approach plays a vital role in facilitating the diagnosis and management of Turner syndrome patients with mosaicism, especially in laboratories that lack of cytogenetic capabilities. These findings support in management, including genetic counseling of Turner Syndrome patients.
Co-Authors Agustini Utari Tri Indah Winarni Tuntas Dhanardhono