Endocrine Abstracts

Background: The presence of the Y chromosome and Y-specific sequences (e.g: SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY, etc) in Turner syndrome patients is a risk factor for gonadal tumors (mostly gonadoblastoma) in dysgenetic gonads. Unfortunately approximately 60% of gonadoblastoma cases, there is a potential to progress towards invasive germ cell tumors (mostly dysgerminoma). Girls with Y chromosomal material also present a higher risk of virilization, because the stroma cells and granulosa/Sertoli cells present in the dysgenetic gonad can produce androgens. Therefore, TS patients Y chromosomal material should undergo prophylactic gonadectomy. In this study we aimed to share our clinical experience.

Methods: The SRY gene was investigated in 71 of 85 TS cases (aged 0.3 months-27 years) between 2005 and 2017. Fluorescent in situ hybridization (FISH) was used until 2014, after then SRY gene analysis was performed by polymerase chain reaction (PCR). In 25 cases with used FISH method, SRY gene analysis was investigated second times by PCR method.

Results: Pathologic findings were not found in terms of virilization, clitoromegaly, posterior labial adhesions in case of TS. SRY gene was found to be negative in all cases. Further studies did not require due to no pathologic findings normal over visualization in USG.

Conclusion: Routine testing for SRY or the presence of Y chromosome material in TS patients without masculinization is not clinically warranted. For these reasons, molecular screening to detect Y-chromosomal sequences is currently recommended in TS individuals with masculine features who are negative for Y material by conventional cytogenetic and FISH analyses. In these individuals, multiple sequences adjacent to the Y centromere should be amplified using PCR.