女性芳香化酶缺乏症1例报告及文献综述

A case of female aromatase deficiency and literature review

芳香化酶缺乏症(aromatase deficiency,AD)是由位于染色体15q21.1上CYP19 A1基因失功能突变导致的一种先天性雌激素合成障碍综合征。作为46,XX性发育异常的罕见病因之一,芳香化酶缺乏症临床表现多样,易误诊,CYP19 A1基因检测可确诊。早期诊断与雌激素替代治疗可减轻或改善患儿临床症状。本文介绍首都医科大学附属北京儿童医院2019年1月收治的1例AD患儿临床诊治及结局情况。

Aromatase deficiency(AD)is a congenital estrogen synthesis disorder syndrome caused by CYP19A1 gene infunction mutation on chromosome 15q21.1.As one of the rare causes of 46,XX sexual dysplasia,aromatase deficiency has various clinical manifestations and is easy to be misdiagnosed.CYP19A1 gene test can confirm the diagnosis.Early diagnosis and estrogen replacement therapy can alleviate or improve the clinical symptoms of children.This paper presents the clinical data of a child with aromatase deficiency admitted to Beijing Children's Hospital of Capital Medical University in January 2019.