Luteinizing hormone receptor mutations and sex differentiation

被引：45
|
作者：
Themmen, APN [1 ]
Brunner, HG [1 ]
机构：
[1] UNIV NIJMEGEN HOSP, DEPT HUMAN GENET, NIJMEGEN, NETHERLANDS
来源：
EUROPEAN JOURNAL OF ENDOCRINOLOGY | 1996年 / 134卷 / 05期
关键词：
D O I：
10.1530/eje.0.1340533
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Mutations in the luteinizing hormone (LH) receptor gene have been found in patients with abnormalities in their sexual differentiation. In this paper we review results obtained in the studies of these LH receptor mutations. Activating and inactivating mutations are discussed with respect to the mechanism of action of LH/human chorionic gonadotrophin but also in light of their impact of the present knowledge of the physiology of sex differentiation and gonadal function.
引用
收藏
页码：533 / 540
页数：8
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