Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene
Open Access
- 22 February 1996
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 334 (8), 507-512
- https://doi.org/10.1056/nejm199602223340805
Abstract
In normal males, luteinizing hormone (LH) regulates the function of Leydig cells and, hence, male sexual differentiation, pubertal androgenization, male sexual function, and fertility. Abnormalities in the function of Leydig cells result in primary hypogonadism and varying degrees of male pseudohermaphroditism.1-5 In these patients, Leydig cells are absent, hypoplastic, or unresponsive to stimulation with human chorionic gonadotropin (hCG), and studies of testicular-biopsy samples from some patients have revealed the absence of LH receptors.2,3Keywords
This publication has 21 references indexed in Scilit:
- A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndromeJournal of Clinical Endocrinology & Metabolism, 1995
- Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor geneNature Genetics, 1995
- A potential novel mechanism for precocious puberty in juvenile hypothyroidismJournal of Clinical Endocrinology & Metabolism, 1995
- Hormone-binding properties and glycosylation pattern of a recombinant form of the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor expressed in mammalian cellsEndocrinology, 1994
- A common step for signal transduction in G protein-coupled receptorsTrends in Pharmacological Sciences, 1994
- Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.JCI Insight, 1993
- Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH- , and TSH receptor autoantibody-stimulated phosphoinositide and 3',5'- cyclic adenosine monophosphate signal generationMolecular Endocrinology, 1993
- Effects of truncations of the cytoplasmic tail of the luteinizing hormone/chorionic gonadotropin receptor on receptor-mediated hormone internalizationMolecular Endocrinology, 1992
- Cloning and sequencing of human LHhCG receptor cDNABiochemical and Biophysical Research Communications, 1990
- A clinico‐genetic investigation of Leydig cell hypoplasiaAmerican Journal of Medical Genetics, 1987