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学科主题临床医学
17-alpha-Hydroxylase deficiency: a case report with clinical and molecular analysis
Li, Hua; Qiao, Jie; Guo, Hongyan
关键词17 Alpha-hydroxylase Deficiency Congenital Adrenal Hyperplasia Primary Amenorrhoea
刊名GYNECOLOGICAL ENDOCRINOLOGY
2010-07-01
DOI10.3109/09513591003632068
26期:7页:521-523
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Endocrinology & Metabolism ; Obstetrics & Gynecology
研究领域[WOS]Endocrinology & Metabolism ; Obstetrics & Gynecology
关键词[WOS]P450C17 DEFICIENCY ; BRAZILIAN PATIENTS ; 17-HYDROXYLASE ; MUTATION
英文摘要

Background. 17 alpha-Hydroxylase deficiency (17OHD) is a rare disease of congenital adrenal hyperplasia. It is characterised by hypertension, hypokalaemia, primary amenorrhoea. Deficiency of P450c17 enzyme is caused by mutation of the CYP17 gene.

Case. A 16-year-old female with genotypic 46, XY suffered from 17OHD. She presented with primary amenorrhoea, lack of secondary sexual characteristics, and hypertension. Laboratory tests showed hypokalaemia, low levels of androgens (testosterone and dehydroepiandrosterone), corticosteroid, and high levels of adrenocorticotropic hormone and progesterone. A P409R mutation was found in exon7 of CYP17 gene, revealing homozygosis and confirming diagnosis of 17OHD.

Conclusion. 17OHD is a rare disease associated with primary amenorrhoea and hypertension. Identification of mutation in CYP17 gene can help to a better understanding of this enzyme deficiency.

语种英语
WOS记录号WOS:000279817500008
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被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56423
专题北京大学第三临床医学院
北京大学第三临床医学院_生殖医学中心
作者单位Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100191, Peoples R China
推荐引用方式
GB/T 7714
Li, Hua,Qiao, Jie,Guo, Hongyan. 17-alpha-Hydroxylase deficiency: a case report with clinical and molecular analysis[J]. GYNECOLOGICAL ENDOCRINOLOGY,2010,26(7):521-523.
APA Li, Hua,Qiao, Jie,&Guo, Hongyan.(2010).17-alpha-Hydroxylase deficiency: a case report with clinical and molecular analysis.GYNECOLOGICAL ENDOCRINOLOGY,26(7),521-523.
MLA Li, Hua,et al."17-alpha-Hydroxylase deficiency: a case report with clinical and molecular analysis".GYNECOLOGICAL ENDOCRINOLOGY 26.7(2010):521-523.
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