摘要
目的:提高临床医生对Turner综合征的认识。方法:分析Turner综合征临床和辅助检查特点。结果:所有患者都有矮小,乳房发育不良或不发育,同时伴有黑痣增多5例,发际低5例,眼裂不等大1例,眼睑下垂4例,鼻梁低平2例,颈蹼4例,乳头间距明显增宽5例,明显肘外翻4例。性腺BUS:2例子宫、卵巢发育不良,3例子宫卵巢显示不清,3例子宫、卵巢未显示。染色体核型分析:45,XO4例;45XO/46XX2例;46,X,i(Xq)1例;46,X,del(Xq)1例。骨龄:8例均提示骨龄落后,平均1～3年。其中2例有第4掌骨短小。生长激素激发试验:1例激发试验生长激素水平正常,5例生长激素部分缺乏,2例生长激素完全缺乏。结论:Turner综合征具有典型的临床特点,临床发病率高,提高对本病认识,及时进行染色体核型分析可以确诊。早期诊断、及时治疗对增加患者终身高,提高Turner综合征患者的生活质量有重要意义。
Objective： To improve the cognition of clinical doctors to Turner syndrome. Methods： The clinical and examination characteristics of Turner syndrome were analysed. Results： All the cases were short, mammary dysplasia or agenesis, and 5 cases of more moles, 5 cases of low hairline, 1 case of different ocali rimae, 4 cases of blepharoptosis, 2 cases of low and flat bridge of the nose, 4 ca- ses of webbed neck, 5 eases of wide distance of two nipples, 4 cases of valgus eubitus were found. Sex glands BUS found 2 cases of hypogenesis of uterus and ovary, 3 cases of indiscernible uterus and ovary, 3 cases of invisible uterus and ovary. Karyotype analysis found 4 ca- ses of 45, XO; 2 cases of45XO/46 XX; 1 case of 46, X, i （Xq） and 1 case of 46, X, del （Xq）. Skeletal age detection indicated that all the 8 cases had laggard skeletal age, the mean time was 1 - 3 years, and 2 cases were found with a shorter fourth metacarpal. Growth hormone provocative test showed that 1 case was nrmal, 5 cases were deficiency partially, 2 cases were deficiency absolutely. Con- clusion ： The clinical characteristics of Turner syndrome are typical and its incidence is high, timely karyotype analysis is a method of accurate diagnosis. Early diagnosis and early therapy are important for improving the life quality of the patients.
出处
《中国妇幼保健》
CAS
北大核心
2009年第21期2969-2970,共2页
Maternal and Child Health Care of China
关键词
TURNER综合征
临床特点
诊断
治疗
Turner syndrome
Clinical characteristics
Diagnosis
Treatment
