hrp0089p2-p266 | Growth & Syndromes P2 | ESPE2018

A Novel FGFR1 Mutation in Kallmann Syndrome with Growth Hormone Deficiency

Tornese Gianluca , Pellegrin Maria Chiara , Pavan Matteo , Faleschini Elena , Barbi Egidio

Background: Kallmann syndrome (KS) is a genetic disorder, mainly characterized by the association of anosmia (due to hypo/aplasia of the olfactory bulbs) and hypogonadotropic hypogonadism (due to GnRH deficiency). Both partial or complete forms are described. Other features (skeletal and renal malformations, deafness, bimanual synkinesis) can be variably associated. Behind this phenotypic heterogeneity, there is a considerable complexity of genetic mutations. KAL1, <e...