hrp0089p2-p266 | Growth & Syndromes P2 | ESPE2018
, 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...