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...

ea0029p925 | Female Reproduction | ICEECE2012

Variants of the NR5A1 gene in a large cohort of patients with primary ovarian insufficiency

Voican A. , Bachelot A. , Bouligand J. , Francou B. , Lombes M. , Touraine P. , Guiochon-Mantel A.

Premature ovarian insufficiency (POI) is a disorder which affects ~1% of women under 40 years of age. Genetic component has been suggested in the majority of cases of nonsyndromic forms, and recently mutations of NR5A1 have been reported to be associated with POI. In order to evaluate the frequency of NR5A1 mutations in POI together with the functional characterisation of the existing variants, we conducted a genetic study on a large cohort of POI patients.<p class=...

ea0026p178 | Neuroendocrinology | ECE2011

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations

Francou B , Bouligand J , Voican A , Amazit L , Brailly-Tabard S , Lecomte P , Young J , Guiochon-Mantel A

Introduction: TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadism (nCHH). In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher the pathophysiology of this signaling pathway. Our objective was to characterize novel TACR3 mutations and to analyze neuroendocrine profiles in nCHH patients with TAC3/TACR3 biallelic mut...