染色体平衡易位46,XY,t（4;7）（q21;p15）致生长激素缺乏症的临床综合分析

目的探讨平衡易位携带者对子代的影响。方法患者及家系成员外周血淋巴细胞常规培养制备染色体,进行核型分析。对患者进行复合刺激试验,采用化学发光法检测生长激素（GH）、促卵泡生成素（FSH）和促黄体生成激素（LH）水平,同时检测其他代谢相关生化指标及相关影象检查。结果患者核型为46,XY,t（4;7）（q21;p15）,患者母亲核型为46,XX,t（4;7）（q21;p15）,其他成员核型正常。患者复合刺激试验示GH分泌反应低下,FSH、LH反应正常,血清胰岛素样生长因子-I（IGF-1）、胰岛素样生长因子结合蛋白-3（IGFBP-3）、促肾上腺皮质激素（ACTH）、硫酸去氢表雄酮（DHEA-S）、总睾酮（T）低于参考范围的下限。骨龄11岁,垂体MRI排除脑组织异常。结论患者的异常表型是由于生长激素缺乏所致,常染色体平衡易位可致子代生长激素缺乏症。

Aggregate clinical analysis of growth hormone deficiency caused by balanced chromosomal translocation of 46,XY,t(4;7)(q21;p15)

Objective:To investigate the influence of Balanced Chromosomal Translocation Carriers to the filial generation.Methods: The Chromosome was extracted from the peripheral blood lymphocyte of the patient and the family members,karyotype analysis were performed.Compound stimulation experiment was performed on the patient,the expression level of GH,FSH,and LF were detected using chemiluminescence,the expression of some other metabolism related biochemical indicators and image analysis were also performed.Results: The karyotype of the patient and his mother is 46,XY,t(4;7)(q21;p15)and 46,XX,t(4;7)(q21;p15)respectively,whereas the karyotypes are normal in the other family members.Compound stimulation experiment showed that in the patient,GH secretion respond is lower,whereas the level of FSH,LH are normal.IGF-1,IGFBP-3,ACTH,andrusol,DHEA-S and testosterone are lower than the low limit of reference scope.Bone age is eleven.Brain abnomal was excluded by hypophysis MRI.Conclusion: the abnormal phenotype was due to growth hormone deficiency.We concluded that based on our project,somatic chromosome Balanced Chromosomal Translocation may lead to somatic chromosome.