Detection of Y chromosome material in patients with turner syndrome by molecular analysis

Abstract

Turner syndrome (TS) is a disorder characterized by short stature, gonadal failure and other endocrine or congenital abnormalities. Detecting the presence of Y chromosome material in TS without overt Y-mosaicism is very important because the patients with Y chromosome fragments have an increased risk for the development of gonadoblastoma. The aim of this study was to investigate the presence of Y chromosome material using Y-specific sequences in 130 Korean patients with TS, who had not shown any Y chromosome fragments analyzed by the cytogenetic method. Fourteen Y-specific sequences were amplified by polymerase chain reaction (PCR), using genomic DNA obtained from peripheral blood lymphocytes, to detect cryptic Y chromosome material. The PCR analysis demonstrated that 8 patients among 97 patients without overt Y chromosome (8.3 %) have hidden Y chromosome material, suggesting that PCR may be a more sensitive method than classical cytogenetic analysis to detect hidden Y chromosome material in patients with TS. Moreover, there is no difference in clinical characteristics, including virilization between patients with and without Y chromosome material. These results suggest that the detection of hidden Y chromosome material by sensitive methods, such as PCR, should be included in the initial evaluation of all patients with TS to calculate the future risk of gonadoblastoma and its proper management.