Searchable abstracts of presentations at key conferences in endocrinology

ea0011s36 | Clinical lessons from novel aspects of G protein-coupled receptors signalling | ECE2006

Moleular pathology of the FSH receptor

Vasseur C , Rodien P , Meduri G , Touraine P , Lahuna O , Kuttenn F , Misrahi M

The identification of naturally occurring genetic mutations of the FSH receptor has led to a better understanding of the role of FSH in folliculogenesis and has allowed to identify the cause of several syndroms. Inactivating mutations of the follicle stimulating hormone (FSH) receptor have been described in rare cases of premature ovarian failure (POF). We have studied a new patient presenting a complete POF phenotype, with high plasma FSH levels, very low estrogen and inhibin...