性畸形是由于性别分化异常所致的性染色体病。主要表现为个体性别基因型与表现型不相符,性器官发育异常。细胞遗传学检查对本病的诊断有重要意义。本文报告两例性分化异常病例(睾丸女性化综合征、女性假两性畸形各一例)并结合病例简要讨论。例1 24岁,社会性别女。21岁始曾有5～6次便后点滴样出血,自认为“月经来潮”。末次出血在半年前,以“闭经”就诊。体检:女性外貌、 Sexual deformity is due to sexually transmitted abnormalities caused by sex chromosome disease. Mainly for individual gender genotypes and phenotypes do not match, sexual organ dysplasia. Cytogenetic examination of the disease diagnosis is of great significance. This article reports two cases of abnormal differentiation (testicular feminization syndrome, a case of female pseudohermaphroditism) and a brief discussion of the cases. Example 1 24 years old, female gender. 21-year-old had had 5 to 6 times after drip-like bleeding, consider themselves “menstrual cramps.” The last bleeding six months ago, to “amenorrhea” treatment. Physical examination: female appearance,