A Chorionic GonadotropinSensitive Mutation in the Follicle-Stimulating Hormone Receptor as a Cause of Familial Gestational Spontaneous Ovarian Hyperstimulation Syndrome
Claudine Vasseur, M.D., Patrice Rodien, M.D., Ph.D., Isabelle Beau, Ph.D., Agnès Desroches, A.E., Capucine Gérard, M.D., Loïc de Poncheville, M.D., Stéphanie Chaplot, M.D., Frédérique Savagner, Pharm.D., Ph.D., Anne Croué, M.D., Elisabeth Mathieu, Pharm.D., Najiba Lahlou, M.D., Philippe Descamps, M.D., and Micheline Misrahi, M.D., Ph.D.
Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
Spontaneous ovarian hyperstimulation syndrome is a rare event,in contrast to iatrogenic ovarian hyperstimulation syndrome,which is induced with the use of gonadotropins in assisted reproductivemedicine. The pathological features of the syndrome, whetherspontaneous or iatrogenic, include the presence of multipleserous and hemorrhagic follicular cysts lined by luteinizedcells, a condition called hyperreactio luteinalis.1 The pathogenesisof the syndrome and its systemic manifestations are poorly understood.2,3,4,5,6We describe a familial case of recurrent spontaneous ovarianhyperstimulation syndrome. The affected women were heterozygousfor a mutation in the transmembrane domain of the gene encodingthe follicle-stimulating hormone receptor. In . . . [Full Text of this Article]
Case Report
Family History
Methods
Hormone Assays
DNA Sequencing
Construction of an Expression Vector Encoding the Mutated Follicle-Stimulating Hormone Receptor
Functional Studies of the Mutated Receptor
Results
Identification of the Mutation
Functional Studies of the Mutant Receptor
Discussion
Source Information
From the Service de Gynécologie Obstétrique (C.V., C.G., L.P., S.C., P.D.), INSERM EMI Unité 0018 (P.R., F.S.), Service d'Endocrinologie (P.R.), Laboratoire de Biochimie (F.S.), Laboratoire d'Anatomopathologie (A.C.), and Laboratoire d'Hormonologie (E.M.), Centre Hospitalier Universitaire d'Angers, Angers; INSERM EMI Unité 120, Hôpital Bicêtre, Le Kremlin Bicêtre (I.B., A.D., M.M.); and Laboratoire d'Hormonologie, Hôpital St. Vincent de Paul, Paris (N.L.) all in France.
Address reprint requests to Dr. Rodien at the Service d'Endocrinologie, Centre Hospitalier Universitaire d'Angers, 4, rue Larrey, 49033 Angers CEDEX 01, France, or at parodien@chu-angers.fr.
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