中间性 - 中间性性象谱

中间性的原因 - 染色体因素

男性：克莱里菲尔特综合征(Klinefelter Syndrome)

术语“综合征(syndrome)”是指具有相同病因的一系列病症的统称。在这种病例，综合征是以美国内科医生哈里 F.克莱里菲尔特的名字命名的，他在1940年代(1942年——译者注)，是研究这类疾病的学者中第一个报道它的人[在中国大陆医学界，该综合征有不同的病名：曲细精管发育不全(seminiferous tubule dysgenesis)、硬化性细精管退行性变(sclerosing tubular degeneration)、先天性睾丸发育不全、原发性小睾丸症(primary microorchidism)、青春期曲细精管衰竭(pubertal seminiferous tubulefailure)和先天性生精不能症——译者注] 。在每一个病例中，并不是所有可能的症状都会出现，可是该病却有着相同的病因：患者多出了一条额外的X染色体(XXY, 或非常罕见的XXXY)，而不是正常的性染色体组合XY。其根源还在于双亲的卵子和/或精子发生过程中的障碍，可是，如何发生和为什么发生了障碍尚不完全清楚。不过：许多带有这种异常染色体组合的男性根本就不发生临床症状。换一句话说：他们没有任何综合征的特征性症状，只是没有意识到自己多余的X染色体而过了那么一辈子。所以，从某种程度上带来了一定的疑问，那就是“克莱里菲尔特综合征”的命名是否真的有用？简单地叫它为“XXY男性”不是更精确！通常，这些男子是不育的。他们可能有一定程度的语言残障，也可能有以下列举的某种或全部的身体异常特征：

                                 罹患克莱里菲尔特综合征者的可能生理特征                         Possible physical features related to Klinefelter syndrome

Intersexuality - The Intersexual Spectrum

Causes of Intersexuality - Chromosomes

Males: Klinefelter Syndrome

The term “syndrome” refers to a variety of symptoms that have the same cause. In this case, the syndrome is named after the American physician Harry F. Klinefelter who was among the first to describe it in the 1940s. Not all possible symptoms are present in each case, but they do have the same cause: Instead of the typical chromosomal combination XY, there is an additional X-chromosome (XXY or, very rarely, XXXY). The reason is some irregularity in the parents’ egg and/or sperm production, but how and why this happens is not yet fully understood. However: Many males with this atypical chromosomal combination do not develop a syndrome at all. In other words: They do not have any characteristic set of symptoms, but go through life without becoming aware of their extra X-chromosome. It is therefore somewhat questionable whether the term “Klinefelter syndrome” is really useful. It may be more accurate to speak simply of “XXY males”. As a rule, these males are infertile. They may have some language disability, and they may also have some or all the the physical features summarized in the following illustration:

Possible physical features related to Klinefelter syndrome