A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.
A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases.
McElreavey
K
K
Immunogénétique Humaine, Institut Pasteur, Paris, France.
Rappaport
R
R
Vilain
E
E
Abbas
N
N
Richaud
F
F
Lortat-Jacob
S
S
Berger
R
R
Le Coniat
M
M
Boucekkine
C
C
Kucheria
K
K
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D015345:Oligonucleotide Probes / Q000235:genetics; D016133:Polymerase Chain Reaction; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014998:Y Chromosome
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D015345:Oligonucleotide Probes; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors