A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads (see comments)

摘要

The sex-determining region Y chromosome (SRY) triggers testis determination. We report a 46,XX true hermaphrodite who had ambiguous genitalia at birth. A laparotomy at one year of age revealed this patient to have a testis on the right side and an ovotestis on the left side. By polymerase chain reaction analysis no SRY was detected in the DNA from the leukocytes but it was found in the DNA from the ovotestis. The hidden mosaicism with the Y-bearing cells in the gonads is likely the cause of the dual gonads in this patient.