【摘要】 目的:明确1例原发性闭经伴明显男性化的女性患者的病因诊断。方法:报告1例原发性闭经伴明显男性化的女性患者的临床表现、性染色体检查、生化和类固醇激素测定及影像学检查。在征得患者本人、其母亲和同胞哥哥的同意后,采用PCR技术、直接基因测序法测定基因型。结果:该患者染色体性别为女性,46XX。经临床表现和激素检测分析确诊为21-羟化酶缺陷症(21OHD)致先天性肾上腺皮质增生症(CAH),基因突变检测显示该患者及其同胞哥哥CYP21A2基因第4号外显子存在I172N纯合突变,患者母亲该位点为杂合突变型。结论:该患者为21OHD致单纯男性化型CAH,其基因突变点为CYP21A2第4号外显子的I172N纯合突变,为常染色体隐性遗传的热点突变,因而从分子遗传学方面对该患者进行了确诊。更多还原

【Abstract】 Objective: To explicate the etiological diagnosis of a female patient with primary amenorrhea and masculine characteristic. Methods: Clinical features and laboratory data were collected. Polymerase chain reaction( PCR) and direct gene sequencing were also applied to adduce the genotype of the patient,her mother and brother. Results: The karyotype of the patient was normal( 46XX). The patient was diagnosed as congenital adrenal hyperplasia( CAH) caused by 21-hydroxylase deficiency( 21OHD) through clinical manifestation and hormone detection. I172 N mutation in exon 4,which was identified in the patient and her brother demonstrated a homozygous mutation,whereas heterozygous mutation was found in her mother. Conclusion: The patients diagnosed as simple virilizing form CAH caused by 21 OHD. I172 N mutation is the dominant mutation for the simple virilizing form. The diagnosis rests on clinical and hormonal data. Genotyping is reserved for confirming and genetic counseling.更多还原