摘要
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.
作者
李蓉
邵倩
陈适
李萍
孙海玲
LI Rong;SHAO Qian;CHEN Shi;LI Ping;SUN Hailing(Department of Endocrinology,the Affiliated Hospital of Jining Medical University;Chinese Center for Behavioral Medical Research in Growth and Development,Jining 272029,China;Department of Endocrinology,Peking Union Medical College Hospital,Beijing 100730,China)
出处
《济宁医学院学报》
2018年第2期115-119,共5页
Journal of Jining Medical University
基金
山东省人口和计划生育委员会项目(2014年第32号)
济宁市科技助推新旧动能转换计划项目(2017SMNS007)