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第192例 阴蒂增大-青春不发育-多囊卵巢-骨骼畸形 被引量：4

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摘要 患者女，1997年10月出生。母亲在妊娠期间未服用和接触任何药物，怀孕后逐渐出现面部大量痤疮，声音变粗，唇上胡须生长，皮肤油腻，症状持续整个孕期，分娩1年后以上症状逐渐缓解，期间未测定血睾酮水平。患者出生时家属发现外阴畸形，阴蒂明显增大成阴茎状，尿道口位于阴蒂顶端。出生后阴蒂无进一步增长。
作者 茅江峰 伍学焱 聂敏 卢琳 卢双玉 陆召麟
机构地区 中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室
出处 《中华医学杂志》 CAS CSCD 北大核心 2009年第46期3304-3306,共3页 National Medical Journal of China
关键词 阴蒂增大 骨骼畸形 多囊卵巢 不发育 青春 症状持续 妊娠期间 胡须生长
分类号 R597 [医药卫生—内科学]
  • 相关文献

参考文献5

  • 1Huck CE, Tajima T, Pandey AV, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature Genetics, 2004, 36: 228-230.
  • 2Arlt W, Walker EA, Draper N, et al. Congenital adrenal hyperplasia caused by mutant 17450 oxidoreductase and human androgen synthesis : analytical study. Lancet, 2004, 363 : 2128- 2135.
  • 3Krone N, Dhir V, Hannah E. Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clinical Endocrinology, 2007, 66 : 162-172.
  • 4Maki F, Tomonobu H, Reiko H, et al. Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res, 2006, 59 : 276-280.
  • 5Masanori A, Katsuhiko T, Yumi A, et al. Compound heterozygous mutations of eytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. Am J Med Gene, 2004, 128A: 333-339.

同被引文献13

  • 1Fluck CE,Tajima T,Pandey AV. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without antley-bixler syndrome[J].Nature Genetics,2004.228-230.
  • 2Masanori A,Katsuhiko T,Yumi A. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with antley-bixler syndrome[J].American Journal of Medical Genetics,2004.333-339.
  • 3Ningwu H,Vishal A,Kathleen M. Genetics of P450 oxidoreductase:Sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations[J].Proceedings of the National Academy of Sciences(USA),2008.1733-1738.
  • 4Maki F,Nishimura G,Homma K. Cytochrome P450 oxidoreductase deficiency:identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients[J].Journal of Clinical Endocrinology and Metabolism,2009.1723-1731.
  • 5Arlt W,Walker E.A,Draper N. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis:analytical study[J].The Lancet,2004.2128-2135.
  • 6Krone N,Vivek D,Hannah E. Congenital adrenal hyperplasia and P450 oxidoreductase deficiency[J].Clinical Endocrinology,2007.162-172.
  • 7Keiko H,Tomonobu H,Toshiro N. Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency:implication for the backdoor pathway to di-hydrotestosterone[J].Journal of Clinical Endocrinology and Metabolism,2006.72643-72649.
  • 8Alexandra A,Shufang W,Francesco DL. P450 oxidoreductase expressed in rat chondrocytes modulates chondrogenesis via cholesterol-and indian hedgehog-dependent mechanisms[J].Endocrinology,2009.2732-2739.
  • 9Maki F,Tomonobu H,Reiko H. CytochromeP450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency:diagnostic value of urine steroid hormone analysis[J].Pediatric Research,2006.276-280.
  • 10Walter L. Miller.P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations[J]. Trends in Endocrinology & Metabolism . 2004 (7)

引证文献4

二级引证文献11

中华医学杂志
2009年 第46期

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