Themmen A P, Brunner H G
Department of Endocrinology and Reproduction, Erasmus University Rotterdam, The Netherlands.
Eur J Endocrinol. 1996 May;134(5):533-40. doi: 10.1530/eje.0.1340533.
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.
在性分化异常的患者中发现了促黄体生成素（LH）受体基因突变。在本文中，我们综述了这些LH受体基因突变研究的结果。从LH/人绒毛膜促性腺激素的作用机制方面，同时也结合其对目前性别分化生理学和性腺功能知识的影响，对激活突变和失活突变进行了讨论。
