Searchable abstracts of presentations at key conferences in endocrinology

ea0011p156 | Clinical case reports | ECE2006

17beta-hydroxysteroid dehydrogenase deficiency caused by homozygous h271r mutation

Bachelot A , Chakhtoura Z , Kuttenn F , Morel Y , Touraine Ph

17β-hydroxysteroid dehydrogenase-3 (17βHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism due to impaired testicular conversion of androstenedione to testosterone. 46,XY homozygotes or compound heterozygotes for mutations of the HSD17B3 gene have testes and normally developed Wolffian duct derivatives, but they present with undervirilization of the external genitalia, which are often female. About twenty different mutations of the 17βH...

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...