因性染色体异常而引起的各种综合征,其发病率可高达1/700,常见的有先天性睾丸发育不全症,又称克氏综合征(Klinefelter syndrome);先天性卵巢发育不全症,又称杜纳氏综合征(Turner syndrome)以及两性畸形(Hermaphrodite)等三种。本文共确诊该类病例共86例,现将有关资料报道如下: 一、克氏综合征:共12例,年龄最小3岁半,最大32岁。未婚10例,已婚未育2例。患者智力均正常,体型高,皮肤细白,乳房均有不同程度的女性发育,阴茎及睾丸均小。1例曾作精液检查,量仅0.5ml,精子少(3～5条/Hp),头小尾短,活动力差。染色体核型47,XXY6例,46,XY/47,XXY6例。二、杜纳氏综合征:共17例,年龄最小12岁,最大32岁。均未婚。患者智力均较差,体矮小,发际低,颈蹼、上腭弓高及乳房不发育。2 Due to chromosomal abnormalities caused by a variety of syndromes, the incidence can be as high as 1/700, common congenital testicular hypoplasia, also known as Klinefelter syndrome; congenital ovarian hypoplasia, and Known Turner syndrome (Turner syndrome) and hermaphrodite other three. This article were diagnosed in a total of 86 cases of such cases, the relevant information is reported as follows: First, Klinefelter syndrome: a total of 12 cases, the youngest 3 years and a half, maximum 32 years old. 10 cases were unmarried, 2 cases were married and not educated. Patients with normal intelligence, high body size, skin whitening, breasts have varying degrees of female development, penis and testis are small. One case had a semen examination, the amount of only 0.5ml, sperm less (3 to 5 / Hp), short tail, poor activity. Karyotype 47, XXY6 cases, 46, XY / 47, XXY6 cases. Second, Duna’s syndrome: a total of 17 cases, the youngest 12 years old, maximum 32 years old. Are unmarried. Patients with poor intelligence, body short, hairline low, webbed, upper palatal arch and breast undeveloped. 2