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


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.
Ortenberg
Joseph
J
Los Angeles State University School of Medicine-Children's Hospital New Orleans, Louisiana, USA.
Oddoux
Carole
C
Craver
Randall
R
McElreavey
Ken
K
Salas-Cortes
L
L
Guillen-Navarro
Encarnacion
E
Ostrer
Harry
H
Sarafoglou
Kyriakie
K
Clarke
Virginia
V
Yee
Herman
H
D000293:Adolescent; D004268:DNA-Binding Proteins / Q000032:analysis / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D024282:Genes, sry / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D013737:Testis / Q000002:abnormalities / Q000737:chemistry; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors