Course 3
1. Chromosomes
Turner Syndrome
Klinefelter Syndrome
Treatment/Support
Klinefelter Syndrome
中間性 - 中間性性象譜

中間性的原因 - 染色體因素

男性:克萊裏菲爾特綜合征(Klinefelter Syndrome)

術語綜合征(syndrome)”是指具有相同病因的一系列病症的統稱。在這種病例,綜合征是以美國內科醫生哈裏 F.克萊裏菲爾特的名字命名的,他在1940年代(1942——譯者注),是研究這類疾病的學者中第一個報導它的人[在中國大陸醫學界,該綜合征有不同的病名:曲細精管發育不全(seminiferous tubule dysgenesis)、硬化性細精管退行性變(sclerosing tubular degeneration)、先天性睾丸發育不全、原發性小睾丸症(primary microorchidism)、青春期曲細精管衰竭(pubertal seminiferous tubulefailure)和先天性生精不能症——譯者注] 。在每一個病例中,並不是所有可能的症狀都會出現,可是該病卻有著相同的病因:患者多出了一條額外的X染色體(XXY, 或非常罕見的XXXY),而不是正常的性染色體組合XY其根源還在於雙親的卵子和/或精子發生過程中的障礙,可是,如何發生和為什麼發生了障礙尚不完全清楚。不過:許多帶有這種異常染色體組合的男性根本就不發生臨床症狀。換一句話說:他們沒有任何綜合征的特徵性症狀,只是沒有意識到自己多餘的X染色體而過了那麼一輩子。所以,從某種程度上帶來了一定的疑問,那就是克萊裏菲爾特綜合征的命名是否真的有用?簡單地叫它為XXY男性不是更精確!通常,這些男子是不育的。他們可能有一定程度的語言殘障,也可能有以下列舉的某種或全部的身體異常特徵:

                                 罹患克萊裏菲爾特綜合征者的可能生理特徵                         Possible physical features related to Klinefelter syndrome

身材較高

窄肩

乳房發育



寬臀


長臂和長腿

前額狹窄

鬍鬚稀少或缺如

胸毛稀少或缺如(不過,蒙古人種的胸毛本身就稀少,這是需要加以區別的。——譯者注)

女性化陰毛分佈

小睾丸
 

 

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

tallness

narrow shoulders

breast development



wide hips


long arms and legs

no frontal baldness

thin or absent beard

thin or absent chest hair



female pubic hair pattern

small testicles
 

[Course 3] [Description] [How to use it] [Introduction] [Problems in Females] [Problems in Males] [Intersexuality] [Introduction] [Intersexual Spectrum] [Dealing w. Intersex.] [Additional Reading] [Examination]