克林菲爾德症候群

英文條目:https://en.wikipedia.org/wiki/Klinefelter_syndrome

中文條目:https://zh.wikipedia.org/wiki/%E5%85%8B%E6%B0%8F%E7%BB%BC%E5%90%88%E5%BE%81

(原中文引言,歡迎參酌引用)

克林菲爾德症候群(Klinefelter’s Syndrome),又稱克萊恩費爾特症候群XXY症候群克林菲脫症,是一種性染色體異常引起的遺傳疾病,其個體有至少2條XX性染色體,至少1條Y性染色體,典型情況下為XXY。該症於1942年首先由 Klinefelter 發現並描述。額外的X染色體,可能來自卵子精子。發病率為0.1%。

因出生時具備男性外生殖器,幼年時普遍被認定為男性;青春期後會逐漸具備女性性徵。此病患者的症狀表現常有乳房有輕微發育、睪丸發育不全或原發小睪丸症等,並且大部分無法生育

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Klinefelter syndrome or Klinefelter’s syndrome (KS) (klaɪnfɛltər/(Help:英語國際音標)) also known as47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes(X染色體) in males.[1] The primary feature is sterility(不孕).[1] Often symptoms may be subtle and many people do not realize they are affected. 

克林菲爾德症候群或稱克萊恩費爾特症候群,又名XXY、47XXY症候群,是一系列由於男性有兩條或兩條以上的[[X染色體]]所導致的疾病[1] 。該疾病的主要特徵是不孕[1]。通常症狀都很輕微,甚至許多患者根本不知道他們患有該病。

Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination(运动协调), less body hair, smaller genitals(生殖器), breast growth(男性乳房发育症), and less interest in sex.[2] Often it is only at puberty(青春期) that these symptoms are noticed.[3] Intelligence is usually normal; however, reading difficulties(失讀症) and problems with speech are more common. Symptoms are typically more severe if three or more X chromosomes are present.[2]

有些時候症狀會非常顯著,可能會出現肌肉虛弱,身高較高,[[運動協調差]],體毛稀少,[[外生殖器偏小]],[[男性女乳症]]與缺乏性慾。通常在[[青春期]]時發現克林菲爾德症候群的徵狀[3]。智力發展通常與一般人無異,但常見有[[閱讀障礙]]或是在說話上有困難。若有超過三條X染色體,則患者的症狀會比較嚴重[2]

Klinefelter syndrome usually occurs randomly. An older mother might increase the risk slightly. The condition is not inherited(遺傳) from one’s parents.[4] The underlying mechanisms involves at least one extra X chromosome in addition to a Y chromosome(Y染色體) such that there is a total of 47 or more chromosomes(染色体) rather than usual 46.[5] KS is diagnosed by the genetic test(基因檢測) known as a karyotype(核型).[3]

克林菲爾德症候群的發病是隨機的。若孕婦年紀越大,懷有罹患此疾病的胎兒機會也跟著稍微提高。這個疾病沒有[[遺傳性]],所以不會由患病的父親遺傳給下一代[4]。這個疾病的原發機制是在原先就有Y染色體的前提下有一條以上的多餘的X染色體,患者體內的總[[染色體]]數目至少為47條甚至更多,無論如何,都較一般46條染色體為多[5]。克林菲爾德症候群能夠藉著檢測[[染色體核型]]的[[基因試驗]]來獲得確診)[3]

While there is no cure, a number of treatments may help.[6] Physical therapy(物理治療), speech and language therapy(言語治療), counselling(輔導), and adjustments of teaching methods may be useful.Testosterone replacement may be used in those who have significantly low levels. Enlarged breasts may be removed by surgery. About half of males affected with the help of assisted reproductive technology have a chance of having children; however, this is expensive and carries risks.[7] The condition has a nearly normal life expectancy(预期寿命).[6]

雖然目前尚沒有辦法可以完全治癒克林菲爾德症候群,但有一些醫學治療對改善疾病有不小的幫助[6] 。舉例來說,[[物理治療]]、[[語言治療]]、[[心理輔導]]以及適當調整教學方法等等都能協助患者。[[睪固酮補充療法]]對於賀爾蒙不足或是低下的患者能有相當的益處。已經發育生成的乳房組織也可以藉由手術的方法移除。約有一半的男性患者,藉由[[人工輔助生殖技術]]的幫助能有機會擁有自己的小孩,但是,這個是有相當的風險以及所費不貲[7] 。另外,克林菲爾德症候群病患本身的平均壽命無異於一般人[6]

Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births.[4][8] It is named after Harry Klinefelter who identified the condition in the 1940s.[9] 1956 saw the identification of the extra X chromosome.[10] Mice can also have the XXY syndrome, making them a useful research model.[11]

克林菲爾德症候群是一種常見的[[染色體異常疾病]],在新生男童中的發生率介於1/500到1/1000之間[4][8]。該疾病是以它的發現者[[亨利.克林菲爾德]]來命名,亨利在1940年代時確立此疾病特徵[9],並接著在1956找到造成此疾病的多餘X染色體[10] 。由於小老鼠也同樣有可能罹患XXY症候群的可能,這個特點讓它們成為極佳的研究樣本[11]

2016.7.22整合