Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1098 | Neuroendocrinology | ICEECE2012

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

Young J. , Metay C. , Bouligand J. , Tou B. , Francou B. , Maione L. , Tosca L. , Sarfati J. , Brioude F. , Esteva B. , Briand A. , Goossens M. , Tachdjian G. , Guiochon-Mantel A.

Background: Kallmann syndrome (KS) is a genetic disorder associating pubertal failure with anosmia/hyposmia. KS is related to defective neuronal development affecting both the migration of olfactory nerve endings and GnRH neurons. The discovery of several genetic mutations responsible for KS led to the identification of signaling pathways involved in these processes, but the mutations so far identified account for only 30% of cases of KS. Here we attempted to identify new KS r...