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1. SRY gene expression in the ovotestes of XX true hermaphrodites

Author

Joseph, Ortenberg, Carole, Oddoux, Randall, Craver, Ken, McElreavey, L, Salas-Cortes, Encarnacion, Guillen-Navarro, Harry, Ostrer, Kyriakie, Sarafoglou, Virginia, Clarke, and Herman, Yee

Subjects
DNA-Binding Proteins, Male, Adolescent, Testis, Disorders of Sex Development, Gene Expression, Humans, Infant, Nuclear Proteins, Female, Genes, sry, Sex-Determining Region Y Protein, Transcription Factors
Abstract

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.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.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.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.

Published
2002

2. SRY gene expression in the ovotestes of XX true hermaphrodites

Author

Carole Oddoux, Randall Craver, Encarnacion Guillen-Navarro, Joseph Ortenberg, Harry Ostrer, K. E. N. Mcelreavey, L. Salas-Cortes, and Kyriakie Sarafoglou

Subjects
Genetics, medicine.medical_specialty, Gonad, Ovotestis, health care facilities, manpower, and services, Urology, Cytogenetics, Karyotype, social sciences, Biology, medicine.disease, Molecular biology, Testis determining factor, medicine.anatomical_structure, parasitic diseases, Gene expression, True hermaphroditism, medicine, population characteristics, Gene, geographic locations
Abstract

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.

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