Article
A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH.
European journal of endocrinology - 1 Mar 2010
Kottler Marie-Laure, Chou Yen-Yin, Chabre Olivier, Richard Nicolas, Polge Camille, Brailly-Tabard Sylvie, Chanson Philippe, Guiochon-Mantel Anne, Huhtaniemi Ilpo, Young Jacques
Abstract excerpt
CONTEXT: Mutations of the FSHbeta gene, causing in women isolated FSH deficiency and hypogonadism, are very rare and only a few have been described. OBJECTIVE: To describe the phenotype and response to recombinant human (rh) FSH of a female patient with a novel homozygous loss-of-function mutation of FSHbeta, and to characterize in vitro the molecular mechanisms responsible for the FSH inactivation. PATIENT: A...
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