Detection of the sex-determining region of the Y chromosome in 46,XX true hermaphroditism.
OBJECTIVE
Two cases of 46,XX true hermaphroditism were analyzed for two Y-DNA sequences, including the recently cloned gene for male testis determination, the sex-determining region of the Y chromosome (SRY).


METHODS
Polymerase chain reaction was performed to amplify the SRY. DNA was prepared from peripheral blood lymphocytes as well as from gonadal tissue preserved in a paraffin block.


RESULTS
One hermaphrodite contained the SRY sequences in peripheral blood lymphocytes and the testicular part of ovotestis tissue preserved in a paraffin block, while in the second patient these sequences were not detected.


CONCLUSIONS
The SRY positive subject resulted from occult Y mosaicism rather than from X-Y translocation. Testis differentiation in the SRY negative subject may have been caused by mutation of a gene on the X chromosome or, alternatively, on an autosome.
Kojima
Y
Y
Department of Urology, Nagoya City University Medical School, Nagoya, Japan.
Hayashi
Y
Y
Asai
N
N
Maruyama
T
T
Sasaki
S
S
Kohri
K
K
D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006066:Gonads; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes; D008297:Male; D016133:Polymerase Chain Reaction; D019849:Sex Determination Processes; D014998:Y Chromosome / Q000235:genetics*