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Original Article
Brief Report
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Volume 341:1731-1736 December 2, 1999 Number 23
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Leydig-Cell Tumors Caused by an Activating Mutation of the Gene Encoding the Luteinizing Hormone Receptor
Guoquan Liu, Ph.D., Lise Duranteau, M.D., Jean-Claude Carel, M.D., Jason Monroe, B.S., Daniel A. Doyle, M.D., and Andrew Shenker, M.D., Ph.D.

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 by Brunner, H. G.

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The receptor for luteinizing hormone and chorionic gonadotropin plays a major part in normal and abnormal reproductive function.1,2,3,4 In males, activation of the receptor regulates the development and function of Leydig cells.5 Testosterone secreted by Leydig cells promotes male sexual differentiation, pubertal androgenization, and fertility. The human luteinizing hormone receptor is a G protein–coupled receptor with a transmembrane domain composed of seven segments. Activation of the receptor by luteinizing hormone leads to activation of Gs, the G protein that is coupled to adenylyl cyclase, and to an increase in cyclic AMP (cAMP). High concentrations of luteinizing hormone or of . . . [Full Text of this Article]

Case Reports

Methods

Amplification and Sequencing of DNA

Allele-Specific BsrI Digestion

Characterization of the Functional Properties of Mutant Luteinizing Hormone Receptor

Results

Discussion


Source Information

From the Division of Endocrinology, Department of Pediatrics, Northwestern University Medical School and Children's Memorial Institute for Education and Research, Chicago (G.L., L.D., J.M., A.S.); the Service d'Endocrinologie Pédiatrique, Groupe Hospitalier Cochin–Saint Vincent de Paul, Paris (J.-C.C.); and the Division of Pediatric Endocrinology, Temple University Children's Medical Center, Philadelphia (D.A.D.).

Address reprint requests to Dr. Shenker at Children's Memorial Hospital, 2300 Children's Plaza, Box 225, Chicago, IL 60614, or at ashenker@nwu.edu.

References


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