| Kallmann综合征的研究进展 |
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| 引用本文： | 郝丽君,崔英霞. Kallmann综合征的研究进展[J]. 中华男科学杂志, 2006, 12(7): 647-649 |
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| 作者姓名： | 郝丽君 崔英霞 |
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| 作者单位： | 南京军区南京总医院生殖遗传研究室,江苏,南京,210002 |
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| 摘 要： | Kallm ann综合征是一种罕见的遗传病,它表现为促性腺激素分泌不足的性腺功能减退伴嗅觉丧失或嗅觉减退。目前研究已发现Kallm ann综合征的3种遗传方式及其相关的疾病基因。现对Kallm ann综合征的临床诊治及疾病基因的研究进展作一综述。
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| 关 键 词： | Kallmann综合征 KAL-1基因 KAL-2/FGFR1基因 |
| 文章编号： | 1009-3591（2006）07-0647-03 |
| 收稿时间： | 2006-01-20 |
| 修稿时间： | 2006-05-18 |
Advances in the Studies of Kallmann Syndrome |
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| HAO Li-jun,CUI Ying-xia. Advances in the Studies of Kallmann Syndrome[J]. National journal of andrology, 2006, 12(7): 647-649 |
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| Authors: | HAO Li-jun CUI Ying-xia |
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| Affiliation: | Laboratory of Reproduction and Genetics, Nanjing General Hospital, Nanjing command, PLA, Nanjing, Jiangsu 210002, China. |
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| Abstract: | Kallmann syndrome(KS) is a rare hereditary disease.It is characterized by hypogonadotrophic hyponadism in association with anosmia or hyposmia.At present,three modes of inheritance and genes related to KS have been identified.This review focuses on the clinical diagnosis and advances in the studies of the pathogenesis gene for Kallmann syndrome. |
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| Keywords: | Kallmann syndrome KAL-1 KAL-2/FGFR1 |
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