先天性卵巢发育不良综合征的个体化治疗进展  

Development of individualized treatment for congenital ovarian dysplasia syndrome

作　　者：张歆竹 张知新[2] Zhang Xinzhu;Zhang Zhixin(Institute of Clinical Medical Science,Beijing University of Chinese Medicine,Beijing 100029,China)

机构地区：[1]北京中医药大学临床医学院,100029 [2]中日友好医院国际部,北京100029

出　　处：《中华实用儿科临床杂志》2019年第20期1591-1594,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：先天性卵巢发育不良综合征是一种罕见的女性遗传病,其临床特点包括身材矮小和原发性卵巢功能不全,并可能发生全身多系统并发症。其基本治疗主要使用重组人生长激素及雌激素以改善身高、促进第二性征发育,持续时间较长,花费较大,对患者及其家属造成了一定的经济和心理负担。个体化治疗在药物基因组学的基础上对患者及其病情进行精准评估,减少医源性损失的同时也提高了治疗效果。Congenital ovarian dysplasia syndrome is a feminine genetic disease which is rarely seen.Its clinical manifestations include short stature and primary ovarian insufficiency,in addition of which could cause multi-systema-tic complications.According to its therapeutic methods,recombinant human growth hormone and Estrogen are normally used to improve stature and the development of gonad.However,these methods are long-lasting and with great expense,which may result in economic and emotional burdens on patients and their family.On the contrary,individual therapies has a rather precise pharmacogenetical evaluation on patients and their disease,which could effectively decrease iatrogenic loss while enhancing the curative effect.

关 键 词：先天性卵巢发育不良 个体化治疗 重组人生长激素 药物基因组学 

分 类 号：R73[医药卫生—肿瘤]