Searchable abstracts of presentations at key conferences in endocrinology

ea0016s29.4 | Too early-too late: the timing of puberty | ECE2008

Human genetics of pubertal onset

de Roux Nicolas

Pubertal onset results from reactivation of the gonadotropic axis by neuroendocrine mechanisms which remain to be defined. Human genetics is one of the approaches to characterize disease mechanisms and therefore novel physiological system. Two different type of phenotype due to abnormal timing of the pubertal onset are described: advance of the pubertal onset also call central precocious puberty and delayed or absence of puberty. The latter is due to gonadotropic deficiency re...

ea0035oc9.1 | Reproduction | ECE2014

High frequency of FGFR1 mutations in patients with congenital hypogonadotropic hypogonadism and split hand/foot malformation

Villanueva Carine , Jacobson-Dickman Elka , Xu Cheng , Dwyer Andrew , Sykiotis Gerasimos , Tommiska Johanna , Hu Youli , Leger Juliane , Carel Jean-Claude , Gerard Marion , Polak Michel , Tiosano Dov , Drouin-Garraud Valerie , Raivio Taneli , Bouloux Pierre , Sidis Yisrael , Mohammadi Moosa , Manouvrier Sylvie , De Roux Nicolas , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is characterized by absent puberty and infertility due to a lack of GnRH secretion/action. In addition, patients exhibit variable non-reproductive phenotypes such as anosmia, cleft palate, synkinesia, and others. As many as 10% of CHH patients harbor mutations in FGFR1; this group is enriched for skeletal anomalies. We report here a novel CHH-associated skeletal phenotype, split hand/foot malformation (SHFM), ...