17α-羟化酶/17,20-裂解酶缺陷症1例及文献复习

17α-hydroxylase/17,20-lyase deficiency: one case report and literatures review

目的通过1例17α-羟化酶/17,20-裂解酶缺陷症(17α-OHD)患者的临床及基因分析,并结合文献复习本病及其它类型先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)的临床特点。方法收集患者的临床资料、实验室及影像学检查结果,对患者及其一级亲属CYP17A1基因采用PCR扩增产物直接测序明确突变位点。结果基因测序发现该患者CYP17A1第6号外显子c.985-987delins AA纯合突变,导致第329位密码子TAC→AA,17α-羟化酶/17,20-裂解酶功能的完全丧失,明确17α-OHD诊断。结论临床中对于合并高血压、低血钾伴青春期不发育的女性表型患者应注意完善核型及基因检测。

Objective To analyse the clinical and genetic characteristics of a patient with 17α-hydroxylase/17,20-lyase deficiency and review the literature of 17α-OHD and other types of congenital adrenal hyperplasia.Methods Clinical features and laboratory data were collected from the patient.PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patient and her family members.Results A homozygous mutation c.985-987delinsAA in exon 6 was found in the patient which caused the amino acid missense mutation Y329K.So 17α-OHD was clearly diagnosed.Conclusion Chromosome and gene should be tested in any phenotype female patients manifested with hypertension,hypokalemia or sexual infantilism.