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目的通过1例17α-羟化酶/17,20碳链裂解酶缺陷症(17-OHD)合并睾丸精原细胞瘤患者的临床及分子生物学研究,并结合文献复习该病的发病机理。方法患者21岁,社会性别女性,临床诊断17-OHD)。收集患者的临床资料、生化检查、影像学检查、病理结果。取患者外周血白细胞,提取基因组DNA,聚合酶链反应(PCR)扩增CYP17A1基因的8个外显子及其内含子的边界,并通过测序确定突变位点和性质。结果患者临床表现、实验室检查、内分泌功能试验、影像学检查、病理等符合17-OHD合并睾丸精原细胞肿瘤的诊断。CYP17A1基因序列分析发现该患者携带CPY17A1基因为复合杂合突变,分别为第8外显子缺失3个氨基酸(D487～F489)和第6外显子第329密码子TAC→AA,致成其后的移码突变,并提前产生一终止密码子(418TGA)。结论通过该患者临床诊治,使我们对该疾病的认识进一步加深;通过CYP17A1基因突变分析,从分子遗传学方面证实患者的诊断。
Objective To review the clinical and molecular biology of 17 patients with testicular seminoma by 17α-hydroxylase / 17,20-carbon chain cleavase deficiency (17-OHD) and to review the pathogenesis of this disease. Methods Patients were 21 years old, female gender, clinically diagnosed 17-OHD). Collect the patient’s clinical data, biochemical tests, imaging studies, pathological findings. Peripheral blood leucocytes were taken from patients and genomic DNA was extracted. The boundaries of eight exons and their introns of CYP17A1 gene were amplified by polymerase chain reaction (PCR), and the mutation sites and properties were determined by sequencing. Results The clinical manifestations, laboratory tests, endocrine function tests, imaging examination and pathology were consistent with the diagnosis of 17-OHD combined with testicular seminoma tumors. CYP17A1 gene sequence analysis found that the patient carrying the CPY17A1 gene as a complex heterozygous mutation were missing exon 8 of three amino acids (D487 ~ F489) and exon 6 codon 329 TAC → AA, resulting in Of the frameshift mutations and a stop codon (418 TGA) was generated in advance. Conclusions The clinical diagnosis and treatment of this patient further deepen our understanding of the disease. The diagnosis of the patient is confirmed by molecular genetics through CYP17A1 mutation analysis.