Searchable abstracts of presentations at key conferences in endocrinology

ea0016s2.3 | TGFβ superfamily | ECE2008

TGF-β family ligands in glucose and fat homeostasis in adults

Schneyer Alan , Bonner-Weir Susan , Mukherjee Abir , Sidis Yisrael , Thomas Melissa

The bioavailability of activin, GDF11, and myostatin, members of the TGFβ superfamily, is regulated by the soluble antagonists follistatin (FST) and follistatin like-3 (FSTL3). Activin influences tissue fate determination and organogenesis in embryos as well as organ homeostasis in adults while myostatin decreases muscle mass in adults and GDF11 regulates pancreatic β-cell differentiation. In addition, the FST gene produces three protein forms (FST288, FST303, and FS...

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), ...