H. Inoue et al., A RARE CASE OF 46,XX TRUE HERMAPHRODITISM WITH HIDDEN MOSAICISM WITH SEX-DETERMINING REGION-Y CHROMOSOME-BEARING CELLS IN THE GONADS, Internal medicine, 37(5), 1998, pp. 467-471
The sex-determining region Y chromosome (SRY) triggers testis determin
ation. We report a 46,XX true hermaphrodite who had ambiguous genitali
a at birth. A laparotomy at one year of age revealed this patient to h
ave a testis on the right side and an ovotestis on the left side. By p
olymerase chain reaction analysis no SRY was detected in the DNA from
the leukocytes but it was found in the DNA from the ovotestis, The hid
den mosaicism with the Y-bearing cells in the gonads is likely the cau
se of the dual gonads in this patient.