论文部分内容阅读
Klinefelter综合征是性染色体畸变所致的男性性腺机能低下症,细胞遗传学检查其染色体核型80％为47,xxy。少数表现为48,xxxy;48,xxyy;49,xxxxy;49,xxxyy;或46xy/47,xxy相嵌型等。本文报告一例较少见的48,xxxy型Klinefelter综合征,介绍如下: 李××男 20岁。因睾丸阴茎小而求诊。第二胎第二产,父育龄38母育龄36。于妊娠2月时曾先兆流产用“保胎药”治疗。出生时较瘦小,10岁后生长迅速,但睾丸阴茎不长大。自幼智力差,读小学因成绩均不及格而停学。性格孤癖,胆小怕羞,发音尖亢。其姊与弟妹均无先天异常疾患史。体检:表情滞呆,反应迟钝。身高172cm,指端间距176cm,耻跟距93cm。皮肤细腻,无胡须阴毛及腋毛。额窄,眉间距增宽。无喉
Klinefelter syndrome is caused by sex chromosome aberrations in male hypogonadism, cytogenetic examination of its chromosome karyotype 80% to 47, xxy. A few appear as 48, xxxy; 48, xxyy; 49, xxxxy; 49, xxxyy; or 46xy / 47, xxy phase imbedding and the like. This article reports a rare case of 48, xxxy Klinefelter syndrome, described as follows: Lee × × male and 20 years old. Due to small testicular penis treatment. The second child of the second child, parental childcare age of 38 female 36. In February of pregnancy had threatened abortion with “miscarriage medicine” treatment. Relatively thin at birth, rapid growth after 10 years of age, but the testes penis does not grow. My childhood intelligence is poor, primary school due to grades are suspended and suspended from school. Gypsy personality, timid and shy, pronounced hyperactivity. The sisters and siblings have no history of congenital abnormalities. Physical examination: expression of stunned, unresponsive. Height 172cm, finger end spacing 176cm, with a sense of heal 93cm. Delicate skin, no pubic hair and armpit hair. Narrow, eyebrow spacing widened. No throat