• Sao Paulo Med J · Sep 2008

    Case Reports

    Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report.

    • Henrique Soares, Ana Maia, Miguel Campos, Sofia Dória, José Manuel Lopes, and Manuel Fontoura.
    • Hospital de São João, Faculdade de Medicina, Universidade do Porto, Porto, Portugal. hecsoares@europe.com
    • Sao Paulo Med J. 2008 Sep 1; 126 (5): 297299297-9.

    Context45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications.Case ReportThe present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation.

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