伴有生长迟缓的47，XXX综合征3例报道

doi:10.3969/j.issn.1674-8115.2021.11.004

摘要/Abstract

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。

关键词: 47，XXX综合征, 生长迟缓, 染色体疾病, 儿童

Abstract:

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.

Key words: 47, XXX syndrome, growth retardation, chromosomal disease, child

中图分类号:

R725.8

杨利, 冯亚琴, 杨玉, 谢理玲, 王荻兰, 黄慧. 伴有生长迟缓的47，XXX综合征3例报道[J]. 上海交通大学学报(医学版), 2021, 41(11): 1425-1428.

YANG-Li, Ya-qin FENG, Yu YANG, Li-ling XIE, Di-lan WANG, Hui HUANG. Report of 3 cases of 47,XXX syndrome with growth retardation[J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(11): 1425-1428.

图/表 2

参考文献 19

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