SRY gene expression in the ovotestes of XX true hermaphrodites

Joseph Ortenberg, Carole Oddoux, Randall Craver, Ken McElreavey, L. Salas-Cortes, Encarnacion Guillen-Navarro, Harry Ostrer, Kyriakie Sarafoglou

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


Purpose: The pathogenesis of 46 XX true hermaphroditism is uncertain and the role of the SRY gene in ovotestis development has not been thoroughly evaluated. We ascertained the presence of the SRY gene and SRY protein in the ovotestis. Materials and Methods: We evaluated 8 ovotestes by cytogenetic analysis of fibroblast cell culture and analysis of gonadal tissue by polymerase chain reaction to detect the SRY gene and by immunohistochemistry with a monoclonal antibody to human recombinant SRY protein. Results: Fibroblast culture of the ovotestes demonstrated a 46XX karyotype. By polymerase chain reaction all 8 ovotestes demonstrated the SRY gene at low levels. By immunohistochemistry SRY protein was detected in all ovotestes, predominantly in Sertoli and germ cells. Conclusions: The SRY gene has a role in ovotestis genesis. Mosaicism with a Y bearing cell line in the gonad is a possible explanation and further study is warranted.

Original languageEnglish (US)
Pages (from-to)1828-1831
Number of pages4
JournalJournal of Urology
Issue number4 I
StatePublished - 2002


  • Abnormalities
  • Gene expression
  • Hermaphroditism
  • Testis
  • Disorders of sex development
  • Disorders of sexual differentiation


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