Males with a uterus and fallopian tubes, a rare disorder of sexual development

A man (46,XY) is described with an intraabdominal uterus and fallopian tubes. His testes, each of which contained a gonadoblastoma, occupied the intraabdominal adnexal position, leaving the scrotum empty. His external genitalia were unambiguously male. A vagina opened into the urethra. His presenting complaint was inguinal hernia. This developmental defect has been described previously, but genetic aspects and its relation to other conditions, "mixed" gonadal dysgenesis in particular, remains obscure pending the recognition and reporting of more cases studied in the light of recent cytogenetic advances.