Abstract
Testis differentiation is under the control of a testis-determining factor borne by the Y chromosome. SRY, a gene cloned from the sex-determining region of the human Y chromosome, has been equated with the testis-determining factor. Between 80 and 90% of sex-reversed XX male individuals have an anomalous Y in X chromosome translocation during meiosis. It has been postulated that XX male SRY negative individuals might experience testicular differentiation in the absence of the SRY gene. However, there is scarce information on the presence of SRY in testicular tissue of XX males with absence of the SRY gene in leucocytes from peripheral blood. We studied a 16-year-old 46 XX male who had hypospadias, bilateral gynecomastia, and 8cc bilateral testes with multiple testicular cysts. A testicular biopsy showed atrophic seminiferous tubules, germinal aplasia and relative Leydig cell hyperplasia. The SRY gene was studied by PCR and Southern blot analysis in DNA extracted from blood leucocytes using a SRY fragment as a probe, and only by PCR in DNA extracted from testicular tissue embedded in paraffin. The SRY gene could not be demonstrated in peripheral leucocytes neither by repetitive PCR nor by Southern blot analysis in the presence of adequate controls. However, SRY was present after PCR amplification of testicular tissue. We conclude that the SRY gene should be studied in testicular tissue for etiologic diagnosis in XX males who are SRY negative in peripheral leucocyte studies. This finding suggests that the SRY positive cell line in the gonad was responsible for testicular differentiation in this subject.
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Dardis, A., Mendilaharzu, H., Saraco, N. et al. PRESENCE OF THE SRY GENE IN TESTICULAR CELLS OF AN XX KALE WITH NEGATIVE SRY IN BLOOD CELLS. Pediatr Res 38, 623 (1995). https://doi.org/10.1203/00006450-199510000-00035
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DOI: https://doi.org/10.1203/00006450-199510000-00035