中国全科医学 ›› 2021, Vol. 24 ›› Issue (30): 3900-3904.DOI: 10.12114/j.issn.1007-9572.2021.00.567

所属专题: 泌尿系统疾病最新文章合集

• 专题研究 • 上一篇    下一篇

细胞色素P450氧化还原酶基因突变致先天性肾上腺皮质增生症一例报道并文献复习

齐琪,胡红琳*,许敏,王佑民,章秋   

  1. 230000 安徽医科大学第一附属医院内分泌与代谢病科
    *通信作者:胡红琳,主任医师,硕士生导师;E-mail:hhlin1994@sina.com
  • 出版日期:2021-10-20 发布日期:2021-10-20
  • 基金资助:
    安徽省科技厅公益性联动基金(1704F0804026)

Congenital Adrenal Hyperplasia Associated with POR Gene Mutation:a Case Report and Literature Review 

QI Qi,HU Honglin*,XU Min,WANG Youmin,ZHANG Qiu   

  1. Department of Endocrinology and Metabolic Diseases,the First Affiliated Hospital of Anhui Medical University,Hefei 230000,China
    *Corresponding author:HU Honglin,Chief physician,Master supervisor;E-mail:hhlin1994@sina.com
  • Published:2021-10-20 Online:2021-10-20

摘要: 先天性肾上腺皮质增生症(CAH)主要由类固醇生成酶基因突变或细胞色素P450氧化还原酶(POR)基因突变引起,是一种少见的遗传性代谢紊乱,与多囊卵巢综合征(PCOS)具有类似临床表现,常需进行鉴别诊断。本文报道了1例由POR基因突变导致的CAH患者,经基因检测证实其POR基因存在c.1370G>A(外显子12)纯合突变,诊断为细胞色素P450氧化还原酶缺陷症(PORD),提示临床上综合评估体格检查、肾上腺和性腺功能检查结果是识别PORD的关键,必要时需进行基因检测以明确诊断,继而进行精准治疗。

关键词: 肾上腺皮质疾病, 先天性肾上腺皮质增生症, NADPH高铁血红素蛋白还原酶, POR基因, 病例报告, 典型病例, 历史文献

Abstract: Congenital adrenal hyperplasia(CAH)is a rare genetic metabolic disorder mainly caused by steroidogenic enzyme gene or cytochrome P450 oxidoreductase(POR)mutations. As its clinical manifestations are similar to those of polycystic ovary syndrome,a differential diagnosis is often needed to distinguish them. We reported a case of CAH associated with POR mutation,who was finally diagnosed with cytochrome P450 oxidoreductase deficiency(PORD)after being detected with homozygous c.1370G>A mutation in exon 12 of POR by gene test. Our study indicates that the key to identifying PORD is comprehensive analysis of results of physical examination,adrenal and sex hormone tests,and in combination with gene analysis for confirmation when necessary,then based on this,delivering precise treatment.

Key words: Adrenal cortex diseases, Congenital adrenal hyperplasia, NADPH-ferrihemoprotein reductase, POR gene, Case reports, Typical cases, Historical article