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

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.