Turners Syndrome is one of the most common chromosomal abnormalities found in 1 in 2500 live female births. Y chromosome material is detected in up to 6% of patients by karyotype, but with new technologies (DNA analysis), Y chrmosome sequences have been reported in 60% of patients. The presence of Y material has been associated with virilization and with the development of gonadal neoplasia.
Aim: Determine the frequency of Y chromosome sequences in patients with Tuners Syndrome, using FISH and the clinical implications.
Material and methods: We studied 21 patients with Turners Syndrome, confirmed by karyotype and metaphase FISH analysis had been performed to identify SRY gene.
Results: Eight patients (38%) had a 45, X karyotype and the others had mosaicism or a abnormal X chromosome. Two patients (9.5%) were positive for SRY FISH-probe tested. One patient underwent gonadectomy but was negative for gonadoblastoma. The pelvic ultrasound of the other patient was normal and was not performed yet a gonadectomy because of the small number of cells positive for SRY gene (0.5%) and she is still waiting for DNA analysis.
Conclusions: The presence of a Y chromosome has been associated with gonadal neoplasia but we didnt find any case. Even though gonadoblastomas are benign tumors, it has been reported that 50% will progress into invasive dysgerminomas and prophylatic gonadectomy is recommended for Turners patients with a Y chromossome material.
01 - 05 Apr 2006
European Society of Endocrinology