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Original Article
Brief Report
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Volume 339:1823-1826 December 17, 1998 Number 25
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Familial Gestational Hyperthyroidism Caused by a Mutant Thyrotropin Receptor Hypersensitive to Human Chorionic Gonadotropin
Patrice Rodien, M.D., Ph.D., Catherine Brémont, M.D., Marie-Laure Raffin Sanson, M.D., Jasmine Parma, Ph.D., Jacqueline Van Sande, Ph.D., Sabine Costagliola, Ph.D., Jean-Pierre Luton, M.D., Gilbert Vassart, M.D., Ph.D., and Laurence Duprez, M.D., Ph.D.

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Some degree of stimulation of the thyroid gland by human chorionic gonadotropin is common during early pregnancy.1,2,3 When serum chorionic gonadotropin concentrations are abnormally high — for example, in women with molar pregnancies — overt hyperthyroidism may ensue. The pathophysiologic mechanism is believed to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin.4,5 The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors.6

Hyperemesis gravidarum is characterized by excessive vomiting in early pregnancy, leading to the loss of 5 percent or more of body weight.4 It is usually . . . [Full Text of this Article]

Case Report

Methods

Hormone Assays

Sequencing of the Thyrotropin-Receptor Gene

Functional Characterization of the Mutant

Results

Sequence Determination

Functional Characterization of the Mutant Receptor

Discussion


Source Information

From the Institut de Recherche Interdisciplinaire (P.R., J.P., J.V., S.C., G.V., L.D.) and Service de Génétique Médicale (J.P., G.V.), Faculté de Médecine, Université Libre de Bruxelles, Brussels, Belgium; the Service d'Endocrinologie Maladies Métaboliques, Hôpital Cochin, Paris (P.R., C.B., J.-P.L.); and the Centre National pour la Recherche Scientifique, Unité Propre de Recherche 1524, Paris (M.-L.R.S.).

Address reprint requests to Dr. Vassart at IRIBHN, Campus Erasme, 808 Route de Lennik, B-1070 Brussels, Belgium.

References


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