Detection of the SRY gene in patients with Turner Syndrome

J Gynecol Obstet Hum Reprod. 2019 Apr;48(4):265-267. doi: 10.1016/j.jogoh.2019.01.012. Epub 2019 Jan 24.


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.

Keywords: Gonadoblastoma; Reproductive endocrinology; Sex determination; Turner syndrome.

MeSH terms

  • Castration
  • Chromosomes, Human, Y / genetics
  • DNA / analysis*
  • Female
  • Genes, sry / genetics*
  • Gonadal Dysgenesis, Mixed / genetics
  • Gonadoblastoma / prevention & control
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotype*
  • Karyotyping
  • Mosaicism
  • Polymerase Chain Reaction
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics*


  • DNA