| 175 | 6 | 35 |
| 下载次数 | 被引频次 | 阅读次数 |
先天性肾上腺皮质增生症(CAH)是一种临床非常罕见的常染色体隐性遗传病。本文报道我院收治的细胞色素p450氧化还原酶缺乏引起的卵巢黄素化囊肿1例,对病例的临床资料及处理方案进行报告并讨论。
Abstract：[1]田秦杰,张以文,陆召麟,等.不完全型P450 17α酶缺乏症六例报道及分析[J].中华妇产科杂志,2007,42:670-674.
[2]Tian Q,Zhang Y,Lu Z.Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases[J].Gynecol Endocrinol,2008,24:362-367.
[3]Arlt W,Walker EA,Draper N,et al.Congenital adrenal hyperplasia caused by mutant P450oxidoreductase and human androgen synthesis:analytical study[J].Lancet,2004,363:2128-2135.
[4]Krone N,Dhir V,Ivison HE,et al.Congenital adrenal hyperplasia and P450 oxidoreductase deficiency[J].Clin Endocrinol(Oxf),2007,66:162-172.
[5]Fukami M,Nishimura G,Homma K,et al.Cytochrome P450oxidoreductase deficiency:identification and characterization of biallelic mutations and genotype-phenotype correlations in35Japanese patients[J].J Clin Endocrinol Metab,2009,94:1723-1731.
[6]Guaragna-Filho G,Castro CC,Carvalho RR,et al.46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene[J].Arq Bras Endocrinol Metabol,2012,56:578-585.
[7]Sahakitrungruang T,Huang N,Tee MK,et al.Clinical,genetic,and enzymatic characterization of P450oxidoreductase deficiency in four patients[J].J Clin Endocrinol Metab,2009,94:4992-5000.
[8]Idkowiak J,O'Riordan S,Reisch N,et al.Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450oxidoreductase deficiency[J].J Clin Endocrinol Metab.2011,96:E453-462.
基本信息:
中图分类号:R711.75
引用信息:
[1]王春庆,杨佳欣,田秦杰.细胞色素p450氧化还原酶缺乏伴卵巢黄素化囊肿1例[J].生殖医学杂志,2014,23(04):325-327.
2014-04-15
2014-04-15