Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: A population study

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 malignancies have been found in epidemiolog ical studies of cancer, morbidity, or mortality in Turner syndrome. We exam ined 114 females with Turner syndrome for the presence of Y chromosome mate rial by PCR. Initially, five different primer sets were used. Y Chromosome- positive individuals were further examined with an additional four primer s ets. We found 14 (12.2%; 95% confidence interval, 6.9-19.7%) patients who h ad Y chromosome material. The karyotype in 7 of these patients did not sugg est the presence of Y chromosome material. Seven of the patients had been o variectomized before entering the study due to verified Y chromosome materi al, whereas three patients were operated upon after the DNA analysis. The h istopathological evaluations showed that 1 of the 10 ovariectomized patient s actually had a gonadoblastoma. The rest of the patients did not have gona doblastoma or carcinoma in situ on histopathological evaluation. Three pati ents (age, >50 yr) positive for Y chromosome material chose not to have ova riectomy performed, and detailed ultrasonographies did not suggest the pres ence of gonadoblastoma. The frequency of Y chromosome material is high in T urner syndrome (12.2%), but the occurrence of gonadoblastoma among Y-positi ve patients seems to be low (7-10%), and the risk may have been overestimat ed in previous studies, perhaps due to problems with selection bias. This s tudy emphasizes the need for prospective unbiased studies.