Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2006) 11 P720

Hospitais da Universidade de Coimbra, Coimbra, Portugal.


Turner’s 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 Tuner’s Syndrome, using FISH and the clinical implications.

Material and methods: We studied 21 patients with Turner’s 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 didn’t 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 Turner’s patients with a Y chromossome material.

Volume 11

8th European Congress of Endocrinology incorporating the British Endocrine Societies

European Society of Endocrinology 
British Endocrine Societies 

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