姐妹共患先天性肾上腺皮质增生症

发布时间：2018-10-19 13:58

【摘要】：目的探讨同胞共患先天性肾上腺皮质增生症(17α羟化酶缺乏)的临床特点及基因突变。方法回顾分析确诊的2例17α羟化酶缺乏症姐妹患儿临床资料,以及CYP17A1基因Sanger测序及MLPA检测结果。结果 2例患儿分别于4岁及10岁确诊,均有感染后低血钾,高促性腺激素性性腺功能减退表现。1例血压偏高。血钾1.9~4.0 mmol/L,17羟孕酮及脱氢表雄酮降低,增强CT提示肾上腺有不同程度的增粗。姐姐染色体为46,(XY)。2例患儿基因结果显示CYP 17A 1基因复合杂合突变,即来自父源的c.985_987 del TACins AA突变及母源的CYP 17A 1基因外显子1-7区域杂合缺失。结论先天性肾上腺皮质增生症(17α羟化酶缺乏)可在青春期前被发现,当临床出现不明原因低血钾及高血压,需要考虑本病可能。基因检查可以帮助诊断。
[Abstract]:Objective to investigate the clinical characteristics and gene mutation of congenital adrenal cortical hyperplasia (17 伪 -hydroxylase deficiency) in siblings. Methods the clinical data of 2 children with 17 伪 -hydroxylase deficiency were retrospectively analyzed, and the results of Sanger sequencing and MLPA detection of CYP17A1 gene were analyzed. Results two cases were diagnosed at the age of 4 and 10 respectively, all of them had hypokalemia and hypogonadotropin hypogonadism after infection, and 1 case had high blood pressure. The decrease of serum potassium at 4.0 mmol/L,17 of hydroxyprogesterone and dehydroepiandrosterone showed that the adrenal gland was thickened by enhanced CT. There were 46 sister chromosomes, and the results of 2 cases of (XY). Showed that the CYP 17A1 gene had compound heterozygosity, I. e., c.985987 del TACins AA mutation from the father source and 1-7 region heterozygosity deletion of the exon 1-7 of the CYP 17A1 gene from the mother. Conclusion congenital adrenocortical hyperplasia (17 伪 -hydroxylase deficiency) can be found before puberty. Genetic tests can help in diagnosis.
【作者单位】：首都儿科研究所内分泌科;
【分类号】：R725.8

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