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克氏综合征(Klinefelter综合征)是男性性腺功能低下疾病。1242年Klinefelter首先报道其特征是有男性表型,小睾丸、无精子,乳腺增生肥大,促性腺激素排量增加。1959年Jacob等发现患者的染色体组型为47,xxy型。目前把这一有y的染色体异常系统分为xxy型,约占80%;xy/xxy等嵌合型约占10%;其它罕见的xxyy等型约占10%。各型的临床表现大同小异,现将我组所见的1例47,xxy型报告如下:
Klinefelter’s syndrome is a disease of male hypogonadism. Klinefelter first reported in 1242 was characterized by a male phenotype, small testicles, azoospermia, hyperplasia of breast hyperplasia, increased gonadotropin release. In 1959 Jacob et al. Found that the patient had a genotype of 47, xxy type. At present, there are y chromosome abnormal system is divided into xxy type, accounting for about 80%; xy / xxy and other chimeric about 10%; other rare xxyy is about 10%. Each type of clinical manifestations are similar, now I see a group of 47, xxy type report is as follows: