伴有生长迟缓的47,XXX综合征3例报道  

Report of 3 cases of 47,XXX syndrome with growth retardation

作　　者：杨利 冯亚琴 杨玉 谢理玲 王荻兰 黄慧[1] YANG-Li;FENG Ya-qin;YANG Yu;XIE Li-ling;WANG Di-lan;HUANG Hui(Department of Endocrinology,Genetics and Metabolism,Children’s Hospital of Nanchang University/Jiangxi Provincial Children’s Hospital,Nanchang 330006,China)

机构地区：[1]南昌大学附属儿童医院/江西省儿童医院内分泌遗传代谢科,南昌330006

出　　处：《上海交通大学学报（医学版）》2021年第11期1425-1428,共4页Journal of Shanghai Jiao tong University:Medical Science

摘　　要：分析伴有生长迟缓的3例超雌综合征(47,XXX综合征)患儿的临床资料,包括身高、染色体核型,以及生长激素、胰岛素样生长因子-1、性腺发育水平等。3例患儿均因发现生长速度缓慢就诊,无特殊面容,胰岛素样生长因子-1水平均在正常范围;3例均接受生长激素激发试验,其中1例诊断为生长激素部分缺乏症,2例为特发性矮小;3例染色体核型均为47,XXX,符合超雌综合征的诊断。To analyze the clinical data of 3 children with growth retardation, including height, chromosome karyotype, and the levels of growth hormone, insulin-like growth factor-1 and gonadal development. All the 3 cases of children were found to be slow in growth rate, no special face, and normal level of insulin-like growth factor-1;the 3 cases all underwent growth hormone provocation test, of which 1 case was partial growth hormone deficiency and 2 cases were idiopathic short;3 cases of chromosomal karyotypes were 47, XXX, in line with the diagnosis of super-female syndrome.

关 键 词：47 XXX综合征 生长迟缓 染色体疾病 儿童 

分 类 号：R725.8[医药卫生—儿科]