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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), ...

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

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