True hermaphroditism with peripheral blood and gonadal karyotyping

Eight documented cases of true hermaphroditism have been seen in the reproductive endocrine unit at the Medical College of Georgia since 1969. There was histologic evidence of both ovarian and testicular tissue in all cases. Seven patients had peripheral blood karyotypes: 6 had normal 46,XX peripheral blood karyotypes, and 1 patient had a normal 46,XY blood karyotype. Four of the 7 patients studied had chromosomal analysis of 1 or both gonads. Five gonads were karyotyped as 46,XX and 1 revealed a mosaic gonadal pattern of 46,XX/46,XY. The clinical features, anatomic findings, and cytogenetic studies of these patients are reviewed. Discordant findings in peripheral blood and gonadal chromosomes are discussed.