True hermaphroditism

Abstract

True hermaphroditism in humans is defined as the simultaneous presence of both testicular and ovarian tissue in a single individual. I reviewed clinical findings, karyotype, findings of recent molecular analysis, diagnostic tools and treatment of true hermaphroditism. Recent molecular analysis in true hermaphroditism revealed that duplication of 22q was recognized in a 46,XX SRY-negative case. A 46,XX true hermaphrodite in which SRY was negative in blood leukocytes and epithelial oral cells but present and partially deleted in DNA obtained from the testicular portion of the ovotestes was reported. And also, the study using PCR and FISH analyses revealed the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and mosaicism for SRY limited to the gonads is an alternative mechanism for testicular development in 46,XX true hermaphrodites.