DOI: https://doi.org/10.14710/jbtr.v12i2.31127

Detection of TSPY Gene in Turner Syndrome and Its Variants

1Department of Forensic and Medicolegal, Faculty of Medicine, Diponegoro University, Indonesia

2-Department of Pediatrics, Faculty of Medicine, Universitas Diponegoro, Indonesia

3-Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Indonesia

4 Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Indonesia

5 Center of Genomic Research, Universitas YARSI, Indonesia

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Received: 22 Jan 2026; Revised: 17 Apr 2026; Accepted: 12 May 2026; Available online: 29 Aug 2026; Published: 31 Aug 2026.
Open Access Copyright (c) 2026 Journal of Biomedicine and Translational Research
Creative Commons License This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

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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.

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Keywords: TSPY gene; Turner syndrome; PCR.

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Language : EN
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