SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome.
The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors and/or nontumoral androgen-producing lesions. The patients' prognosis can vary, depending on their karyotype. The objective of this study was to investigate the presence of Y-chromosome mosaicism in Turner syndrome patients and its association with the development of gonadal tumors and/or nontumoral androgen-producing lesions. Eighty-seven Turner syndrome patients were studied. Genomic DNA was extracted from peripheral blood and genes SRY and TSPY and DYZ3 repeat of the Y chromosome were amplified by polymerase chain reaction. To the Y-positive patients, prophylactic gonadectomy was offered. The data disclosed hidden Y-chromosome mosaicism in 16 (18.5%) of the patients. SRY sequence was detected in all of the 16 patients, and 4 (4.6%) of them presented DYZ3 repeat region and TSPY gene. Eleven of the patients with Y-positive sequences agreed to undergo the prophylactic surgery. In 2 cases, bilateral gonadoblastoma was found and, in another case, the histopathologic study of the gonads revealed hilus cell hyperplasia. In a further case, there were hilus cell hyperplasia and a stromal luteoma. In conclusion, a systematic search for hidden Y-chromosome mosaicism, especially SRY, in Turner syndrome patients is justified by the possibility of preventing gonadal lesions.
Bianco
Bianca
B
Division of Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, Brazil.
Lipay
Mônica
M
Guedes
Alexis
A
Oliveira
Kelly
K
Verreschi
Ieda T N
IT
D000293:Adolescent; D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D024282:Genes, sry; D018238:Gonadoblastoma / Q000473:pathology*; D006066:Gonads / Q000473:pathology*; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
D018797:Cell Cycle Proteins; C497749:TSPY1 protein, human