Detection of the SRY gene in patients with Turner Syndrome
Erdal Kurnaz1, Semra Çetinkaya1, Şenay Savaş-Erdeve1
1Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.
Background:
If turner syndrome (TS) patients have a Y-containing cell line, they have an increased risk for gonadal tumors. TS patients are therefore screened for Y-chromosome and Y-specific sequences, such as SRY, DYZ1, DYZ3, DYS132, ZFY, TSPY, etc. In addition, since the dysgenetic gonad may include the stroma and granulosa/sertoli cells, which produce androgens, virilization can seen in girls with Y-chromosomal material. Prophylactic gonadectomy may therefore be required for optimal management in such patients. Our aim is to discuss our observations in the follow-up of TS patients.
Methods:
SRY was investigated in 71 out of 85 TS cases (aged 3 months-27 years) between 2005 and 2017. Fluorescent in situ hybridization (FISH) was used until 2014, after which SRY analysis was performed using the polymerase chain reaction (PCR) method. SRY analysis was performed a second time using PCR in 25 cases previously investigated with FISH.
Results:
We identified no positive cases. No pathological findings in terms of virilization, clitoromegaly, or posterior labial adhesions were also determined in our TS cases. Further studies were not required since no pathological findings also were detected at ultrasonography.
Conclusion:
If Y-chromosome material has not been detected by conventional cytogenetic methods in TS patients with masculine features, further techniques should be applied to prevent the risk of invasive tumors, such as multiple sequences beside the Y centromere. This approach will prevent overtreatment.
Insights
Turner syndrome (TS) patients with Y-chromosome material face increased gonadal tumor risk. Screening for Y-specific sequences like SRY is crucial for early detection and management in TS patients.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Turner syndrome (TS) patients with Y-chromosome material have an elevated risk of gonadal tumors.
- Presence of Y-chromosomal material can lead to virilization in TS patients due to androgen production.
- Prophylactic gonadectomy may be necessary for optimal management of TS patients with Y-chromosomal material.
Purpose of the Study:
- To discuss observations in the follow-up of Turner syndrome patients.
- To investigate the presence of Y-specific sequences in TS patients.
- To assess the risk of gonadal tumors and virilization in TS patients.
Main Methods:
- SRY gene investigation in 71 out of 85 TS cases (aged 3 months-27 years) between 2005 and 2017.
- Utilized fluorescent in situ hybridization (FISH) until 2014, followed by polymerase chain reaction (PCR) for SRY analysis.
- Re-analyzed 25 cases using PCR after initial FISH investigation.
Main Results:
- No positive cases of Y-chromosome material were identified in the studied TS cohort.
- No pathological findings, including virilization, clitoromegaly, or posterior labial adhesions, were observed.
- Ultrasonography revealed no pathological findings, negating the need for further studies.
Conclusions:
- If Y-chromosome material is not detected by conventional cytogenetics in TS patients with masculine features, advanced techniques are recommended.
- Screening for multiple Y-chromosome sequences beyond the Y centromere is advised to mitigate invasive tumor risks.
- This comprehensive approach aims to prevent overtreatment in Turner syndrome patients.
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