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目的探讨女童矮身材的遗传学原因。方法选取2005年1月-2014年12月在该院儿童保健科生长发育门诊就诊,符合矮身材诊断标准的123例女童外周血淋巴细胞进行常规染色体培养,同时行SRY基因检测、GH激发试验等检查。结果染色体正常100例(81.30%),染色体异常23例(18.70%),其中13例45,X(占56.52%),4例性染色体数目和结构异常(占17.39%),1例性染色体结构异常(占4.34%),5例含Y染色体部分(占21.74%)。结论性染色体异常是女童矮身材的常见病因。针对矮身材女童常规检查染色体核型分析加上SRY基因检测,早期明确诊断,对拟定矮身材女童治疗方案非常重要。
Objective To explore the genetics of female short stature. Methods From January 2005 to December 2014, 123 cases of peripheral blood lymphocytes were selected for routine chromosome development in the growth and development clinic of Children’s Health Department of the hospital from January 2005 to December 2014. At the same time, SRY gene test and GH challenge test were performed an examination. Results There were 100 cases (81.30%) with chromosomal abnormality, 23 cases (18.70%) with chromosomal abnormality, of which 13 cases were 45 and X (56.52%), 4 cases were chromosomal number and structural abnormalities (17.39% Abnormal (4.34%), 5 cases with Y chromosome (21.74%). Conclusions Sexual chromosomal abnormalities are common causes of short stature in girls. For short stature girls routine examination of chromosome karyotype analysis coupled with SRY gene detection, early diagnosis, the planning of short stature girls treatment program is very important.