ESPE Abstracts (2014) 82 P-D-1-1-202

ESPE2014 Poster Presentations Reproduction (12 abstracts)

Genetic Markers in the Study of Chromosome Y in the Population of Girls with Turner Syndrome

Aleksandra Rojek a , Monika Obara-Moszynska a , Barbara Rabska-Pietrzak a , Zofia Kolesinska a & Marek Niedziela a,


a2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland; bDepartment of Pediatric Endocrinology and Rheumatology, Karol Jonscher’s Clinical Hospital, Poznan, Poland


Background: Turner syndrome (TS) is one of the most common chromosomal aberrations resulting from the total or partial absence of one of the X chromosomes in all or a portion of cells. The presence of genetic material of the Y chromosome in TS patients is a risk factor for the development of gonadoblastoma or dysgerminoma.

Objective and hypotheses: The aim of this study was to detect the presence of fragments of the Y chromosome, which increase the risk of malignant transformation, what may be important for further proper surgical treatment (prophylactic gonadectomy).

Method: The studies were carried out using PCR method. The following genetic markers located in different regions of the Y chromosome were selected: SRY, DYZ1, DYZ3, DYS132, ZFY1, and TSPY gene located within GBY locus (gonadoblastoma locus on the Y chromosome), which is associated with the risk of the development of gonadoblastoma. Additionally, SRY gene was analyzed using direct sequencing method.

Results: 46 patients with TS with different karyotypes were studied. Based on our study 17/46 patients were chromosome Y-positive. 8/17 in the Y-positive group had Y chromosome in their karyotypes and they underwent prophylactic gonadectomy. In two of them histopathologic examination revealed gonadoblastoma and dysgerminoma respectively. Both patients were TSPY-positive. 9/17 in the Y-positive group did not have Y chromosome in their karyotypes. In 9/46 patients TSPY gene was detected – two of them did not have Y chromosome in their karyotypes. SRY gene was identified in 8/46 patients and there was no mutation in the coding region in these SRY-positive patients.

Conclusion: Molecular tests for the presence of genetic material of the Y chromosome in TS, particularly TSPY, are the most precise ones, and may serve as important tools in cancer risk prediction as well as risk of virilization.

Volume 82

53rd Annual ESPE (ESPE 2014)

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

European Society for Paediatric Endocrinology 

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