单纯男性化型先天性肾上腺皮质增生症病例报告并文献复习

One case report with simple virilizing form of congenital adrenal hyperplasia and literature review

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。

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. Resuhs ： The karyotype of the patient was normal （46XX）. The patient was diagnosed as congenital adrenal hyperplasia （CAH） caused by 21-hydroxy- lase deficiency （21OHD） through clinical manifestation and hormone detection. I172N mutation in exon 4, which was identi- fied 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 210HD. I172N mutation is the domi- nant mutation for the simple virilizing form. The diagnosis rests on clinical and hormonal data. Genotyping is reserved for confirming and genetic counseling.