芳香化酶缺乏症研究进展  

Study progress of aromatase deficiency

作　　者：于宝生[1] 

机构地区：[1]南京医科大学第二附属医院小儿内分泌科,210003

出　　处：《中华实用儿科临床杂志》2017年第20期1533-1539,共7页Chinese Journal of Applied Clinical Pediatrics

摘　　要：人类芳香化酶缺乏症是一种罕见的先天性雌激素缺乏综合征，是由编码芳香化酶的基因（CYP19A1）失功能突变所致。现对芳香化酶基因的结构和组织表达，芳香化酶在人体雌激素合成中的关键作用及芳香化酶缺乏症男性和女性患者的临床表现、诊断和治疗进行阐述。Human aromatase deficiency is a rare congenital estrogen deprivation syndrome that is caused by loss -of- function mutations in CYP19A1 gene, which encodes aromatase. Now, the structure and tissue expression of CYP19A1 gene, the critical role of aromatase in catalyzing estrogen biosynthesis, and the clinical manifestation, diagnosis and treatment of aromatase deficiency in men as well as in women are reviewed.

关 键 词：芳香化酶 基因突变 芳香化酶缺乏症 临床表现 诊断 治疗 

分 类 号：R725.8[医药卫生—儿科]