48,xxyy 综合征是睾丸发育不全症(又称Klinefelter 综合征,简称克氏征)的一种少见类型,我院遇见1例,现报道如下。患儿,男性,14岁。因高度近视伴智力低下就诊。系第二胎第一产,足月顺产,出生时及生后早期发育无异常。一岁后发现患儿发育较差,至二、三岁才会走路,平时少言语,但口齿尚清晰,性格乖僻少动。七岁上小学,成绩差,只读到二年级,后经检查 48, xxyy syndrome is testicular hypoplasia (also known as Klinefelter syndrome, referred to as Kirschner sign) a rare type of hospital met 1 case, are reported below. Children, male, 14 years old. Due to a high degree of myopia with mental retardation treatment. Department of the second birth of the first birth, term full-term birth, birth and early pregnancy after birth without exception. After one year of age found that children with poor development, to two or three years old to walk, usually less words, but the mouth is still clear, less perverse character. Seven years old primary school, poor grades, only second graders, after examination