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目的回顾10例17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的资料,分析17OHD的临床特征和分子遗传学特点。方法收集患者临床、基础激素测定和影像学检查资料,对患者及其直系亲属的基因型采用PCR扩增产物直接测序方法明确;对于杂合突变,采用亚克隆方法进一步明确。结果10例患者均存在第二性征不发育、高血压、低血钾;基础激素测定示睾酮、雌二醇、17羟孕酮、皮质醇明显低于正常,而促性腺激素和促肾上腺皮质激素反馈性增高,双侧肾上腺增生。基因诊断共检测到5种基因型;替代和缺失的复合突变占80%;其中D487_F489del3个氨基酸的缺失累及到了4个家系7例患者(70%),共有45%的等位基因受累,是频率最高的突变。结论对于第二性征不发育的患者,应注意该病的鉴别诊断;D487_F489del是中国人的17OHD最常见的突变类型。
Objective To review the data of 10 patients with 17α hydroxylase / 17, 20 carbon chain lyase deficiency (17OHD) and to analyze the clinical features and molecular genetics of 17OHD. Methods The clinical, basal hormone and imaging data of patients were collected. The genotypes of patients and their immediate relatives were determined by direct sequencing of PCR products. For the heterozygous mutation, the subcloning method was used to confirm the genotypes. Results All the 10 patients had secondary sexual development, hypertension and hypokalemia. The test of basal hormone showed that testosterone, estradiol, 17-hydroxyprogesterone and cortisol were significantly lower than normal while gonadotropin and adrenocortical Hormone feedback increased bilateral adrenal hyperplasia. A total of 5 genotypes were detected in the gene diagnosis, 80% of which were combined with substitution and deletion. The deletion of 3 amino acids of D487_F489del involved 7 patients (70%) in 4 pedigrees. A total of 45% of the alleles involved were frequency The highest mutation. Conclusion For patients with secondary sexual characteristics, patients should pay attention to the differential diagnosis; D487_F489del is the most common type of 17OHD mutations in Chinese.