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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。
Objective To investigate the effect of balanced translocation carriers on offspring. Methods Chromosomes were prepared routinely from peripheral blood lymphocytes of patients and their family members for karyotype analysis. The patients were subjected to compound stimulation test. The levels of growth hormone (GH), follicle stimulating hormone (FSH) and luteinizing hormone (LH) were measured by chemiluminescence assay. Meanwhile, other metabolic biochemical indexes and related imaging examination were also examined. Results The karyotype was 46, XY, t (4; 7) (q21; p15). The karyotype was 46, XX, t (4; Compound stimulation test showed low GH secretion, normal FSH and LH responses, serum insulin-like growth factor-I (IGF-1), insulin like growth factor binding protein-3 (IGFBP-3), adrenocorticotropic hormone (ACTH) , DHEA-S and total testosterone (T) below the lower limit of the reference range. Bone age 11 years old, pituitary MRI exclude brain tissue abnormalities. Conclusion The abnormal phenotype of patients is due to the lack of growth hormone, and the autosomal translocation can cause the growth hormone deficiency in the offspring.