LUTEINIZING-HORMONE RECEPTOR MUTATIONS AND SEX-DIFFERENTIATION

Authors
THEMMEN APN BRUNNER HG
Citation
Apn. Themmen et Hg. Brunner, LUTEINIZING-HORMONE RECEPTOR MUTATIONS AND SEX-DIFFERENTIATION, European journal of endocrinology, 134(5), 1996, pp. 533-540
Citations number
60
Categorie Soggetti
Endocrynology & Metabolism
Journal title
European journal of endocrinology → ACNP
ISSN journal
08044643
Volume
134
Issue
5
Year of publication
1996
Pages
533 - 540
Database
ISI
SICI code
0804-4643(1996)134:5<533:LRMAS>2.0.ZU;2-W
Abstract
Mutations in the luteinizing hormone (LH) receptor gene have been foun d in patients with abnormalities in their sexual differentiation. In t his paper we review results obtained in the studies of these LH recept or mutations. Activating and inactivating mutations are discussed with respect to the mechanism of action of LH/human chorionic gonadotrophi n but also in light of their impact of the present knowledge of the ph ysiology of sex differentiation and gonadal function.