Occurrence of Gonadoblastoma in Females with Turner Syndrome and Y Chromosome Material: A Population Study

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Abstract
The presence of Y chromosome material in patients with Turner syndrome is a risk factor for the development of gonadoblastoma. However, no cases with gonadoblastoma or other ovarian malignan- cies have been found in epidemiological studies of cancer, morbidity, or mortality in Turner syndrome. We examined 114 females with Turner syndrome for the presence of Y chromosome material by PCR. Initially, five different primer sets were used. Y Chromosome-positive individuals were further examined with an additional four primer sets. We found 14 (12.2%; 95% confidence interval, 6.9 -19.7%) pa- tients who had Y chromosome material. The karyotype in 7 of these patients did not suggest the presence of Y chromosome material. Seven of the patients had been ovariectomized before entering the study due to verified Y chromosome material, whereas three patients were operated upon after the DNA analysis. The histopathological evaluations showed that 1 of the 10 ovariectomized patients actually had a gonadoblastoma. The rest of the patients did not have gonado- blastoma or carcinoma in situ on histopathological evaluation. Three patients (age, .50 yr) positive for Y chromosome material chose not to have ovariectomy performed, and detailed ultrasonographies did not suggest the presence of gonadoblastoma. The frequency of Y chro- mosome material is high in Turner syndrome (12.2%), but the occur- rence of gonadoblastoma among Y-positive patients seems to be low (7-10%), and the risk may have been overestimated in previous stud- ies, perhaps due to problems with selection bias. This study empha- sizes the need for prospective unbiased studies. (J Clin Endocrinol Metab 85: 3199 -3202, 2000)

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