特納綜合征是什么原因引起的
特納綜合征又(you)稱(cheng)先天性卵巢發育不(bu)全綜合征,由(you)全部(bu)或者部(bu)分體細胞(bao)(bao)中的(de)一條X染(ran)(ran)(ran)色(se)體完(wan)全或者部(bu)分缺失(shi)所(suo)致(zhi),單一的(de)X染(ran)(ran)(ran)色(se)體來自母(mu)親(qin),失(shi)去的(de)X染(ran)(ran)(ran)色(se)體由(you)父親(qin)的(de)精(jing)母(mu)細胞(bao)(bao)性染(ran)(ran)(ran)色(se)體不(bu)分離(li)造成。在某些(xie)條件下,細胞(bao)(bao)中的(de)染(ran)(ran)(ran)色(se)體組可發生數量或結(jie)構上的(de)改變,這一類變化稱(cheng)為染(ran)(ran)(ran)色(se)體異常。大多數致(zhi)突變的(de)因素都可以引起染(ran)(ran)(ran)色(se)體畸變。
特納綜合征的表現
臨床表(biao)現(xian)為身矮、生(sheng)殖器與(yu)第(di)二(er)性征不(bu)發(fa)(fa)育(yu)和一(yi)組軀(qu)體的發(fa)(fa)育(yu)異(yi)常。身高一(yi)般低于150厘米。女性外陰,發(fa)(fa)育(yu)幼(you)稚,有(you)(you)陰道(dao),子宮(gong)小或(huo)缺如。軀(qu)體特征為多痣、眼瞼(jian)下垂、耳(er)大位低、腭(e)弓(gong)高、后發(fa)(fa)際低、頸短(duan)而(er)寬、有(you)(you)頸蹼(pu)、胸廓桶狀或(huo)盾形(xing)、乳頭間(jian)距大、乳房及(ji)乳頭均不(bu)發(fa)(fa)育(yu)、肘外翻、第(di)4或(huo)5掌骨或(huo)跖骨短(duan)、掌紋通(tong)關(guan)手、下肢淋(lin)巴水腫、腎(shen)發(fa)(fa)育(yu)畸形(xing)、主動脈弓(gong)狹窄(zhai)等。智(zhi)力發(fa)(fa)育(yu)程度不(bu)一(yi)。壽(shou)命與(yu)正常人同。母(mu)親年(nian)齡似與(yu)此種發(fa)(fa)育(yu)異(yi)常無關(guan)。
特納綜合征的治療
治(zhi)(zhi)療(liao)(liao)(liao)目的是(shi)促(cu)進身高(gao),刺激(ji)(ji)(ji)(ji)乳房與生(sheng)殖器發育,防治(zhi)(zhi)骨質疏松。Turner患者最(zui)終身高(gao)一(yi)般與同齡人相差約20厘米,并(bing)有(you)(you)種族差異(yi)。對促(cu)進身高(gao)的治(zhi)(zhi)療(liao)(liao)(liao)方法仍有(you)(you)爭議。單用(yong)(yong)(yong)(yong)(yong)雄(xiong)(xiong)(xiong)激(ji)(ji)(ji)(ji)素(su)(su)促(cu)進身高(gao),劑量(liang)小(xiao)時效果不(bu)明(ming)顯,劑量(liang)大(da)時有(you)(you)效,但副作用(yong)(yong)(yong)(yong)(yong)大(da),主要為男性化和糖(tang)耐量(liang)受損(sun)等(deng);單用(yong)(yong)(yong)(yong)(yong)雌(ci)(ci)激(ji)(ji)(ji)(ji)素(su)(su)容易引起(qi)生(sheng)長(chang)(chang)板的早期愈合,從而(er)限制(zhi)骨的生(sheng)長(chang)(chang),抑制(zhi)生(sheng)長(chang)(chang)潛能。雌(ci)(ci)激(ji)(ji)(ji)(ji)素(su)(su)在(zai)(zai)12歲(sui)之前(qian)不(bu)用(yong)(yong)(yong)(yong)(yong),最(zui)好(hao)在(zai)(zai)15歲(sui)后(hou)用(yong)(yong)(yong)(yong)(yong)。用(yong)(yong)(yong)(yong)(yong)雄(xiong)(xiong)(xiong)激(ji)(ji)(ji)(ji)素(su)(su)促(cu)進身高(gao),應在(zai)(zai)8歲(sui)后(hou)再用(yong)(yong)(yong)(yong)(yong),一(yi)般在(zai)(zai)11歲(sui)左右用(yong)(yong)(yong)(yong)(yong)。在(zai)(zai)骨骺愈合前(qian),為增加(jia)(jia)(jia)身高(gao)。近年(nian)來,試用(yong)(yong)(yong)(yong)(yong)含有(you)(you)雌(ci)(ci)、孕、雄(xiong)(xiong)(xiong)三種激(ji)(ji)(ji)(ji)素(su)(su)作用(yong)(yong)(yong)(yong)(yong)的藥物替勃龍(long)(利維(wei)愛,Tibolone),替勃龍(long)(利維(wei)愛)治(zhi)(zhi)療(liao)(liao)(liao),高(gao)于單純(chun)生(sheng)長(chang)(chang)激(ji)(ji)(ji)(ji)素(su)(su)治(zhi)(zhi)療(liao)(liao)(liao)、雌(ci)(ci)激(ji)(ji)(ji)(ji)素(su)(su)加(jia)(jia)(jia)雄(xiong)(xiong)(xiong)激(ji)(ji)(ji)(ji)素(su)(su)治(zhi)(zhi)療(liao)(liao)(liao)和雌(ci)(ci)激(ji)(ji)(ji)(ji)素(su)(su)加(jia)(jia)(jia)雄(xiong)(xiong)(xiong)激(ji)(ji)(ji)(ji)素(su)(su)加(jia)(jia)(jia)生(sheng)長(chang)(chang)激(ji)(ji)(ji)(ji)素(su)(su)治(zhi)(zhi)療(liao)(liao)(liao)的療(liao)(liao)(liao)效,與雄(xiong)(xiong)(xiong)激(ji)(ji)(ji)(ji)素(su)(su)加(jia)(jia)(jia)生(sheng)長(chang)(chang)激(ji)(ji)(ji)(ji)素(su)(su)治(zhi)(zhi)療(liao)(liao)(liao)的療(liao)(liao)(liao)效相近。由于口服方便,是(shi)一(yi)種有(you)(you)希望的治(zhi)(zhi)療(liao)(liao)(liao)方法。
目(mu)前(qian)生(sheng)長(chang)激素(su)(GH)治療較(jiao)為熱門。Turner患者是否有生(sheng)長(chang)激素(su)缺(que)乏的問題(ti),目(mu)前(qian)尚有爭(zheng)議。
用(yong)雌(ci)激(ji)素(su)刺激(ji)乳房和生殖器發(fa)育效果良(liang)好,需長(chang)期(qi)使用(yong)。過早(zao)應用(yong)雌(ci)激(ji)素(su)促使骨(gu)骺早(zao)期(qi)愈合。一般先促進(jin)身(shen)高,骨(gu)骺愈合后再用(yong)雌(ci)激(ji)素(su)使乳房和生殖器發(fa)育。對有(you)(you)子(zi)宮的Turner綜合征(zheng)患者采用(yong)雌(ci)孕激(ji)素(su)周期(qi)療法,并從小劑(ji)量開始。可(ke)用(yong)結合雌(ci)激(ji)素(su)促使乳房發(fa)育,很少(shao)有(you)(you)突(tu)破性出血(xue)。雌(ci)孕激(ji)素(su)周期(qi)療法,有(you)(you)內(nei)膜(mo)者可(ke)能(neng)有(you)(you)月經來潮(chao)。劑(ji)量可(ke)根(gen)據患者的反應進(jin)行調整,以小劑(ji)量有(you)(you)效為度(du)。
特納綜合征孩子能長高嗎
特(te)納綜合征的主要特(te)征之一是身材矮小,一般患(huan)(huan)(huan)兒頭3年的生(sheng)長(chang)(chang)速度相(xiang)對正常,但以后逐漸(jian)下降,由于特(te)納綜合征患(huan)(huan)(huan)兒往(wang)往(wang)無正常青(qing)(qing)春發育(yu)而缺乏青(qing)(qing)春生(sheng)長(chang)(chang)高(gao)峰,在青(qing)(qing)春期生(sheng)長(chang)(chang)落后更明顯,患(huan)(huan)(huan)兒可緩(huan)慢生(sheng)長(chang)(chang)至18~20歲。