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学科主题: 临床医学
题名:
17-alpha-Hydroxylase deficiency: a case report with clinical and molecular analysis
作者: Li, Hua; Qiao, Jie; Guo, Hongyan
关键词: 17 alpha-Hydroxylase deficiency ; congenital adrenal hyperplasia ; primary amenorrhoea
刊名: GYNECOLOGICAL ENDOCRINOLOGY
发表日期: 2010-07-01
DOI: 10.3109/09513591003632068
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56423
Appears in Collections:北京大学第三临床医学院_期刊论文

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作者单位: Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100191, Peoples R China

Recommended Citation:
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.
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