ea0056p726 | Clinical case reports - Pituitary/Adrenal | ECE2018
Martins Ana Sousa
, Gregory Louise
, Dattani Mehul
Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. Known genetic causes account for up to 30% of patients with KS, with FGFR1 mutations being identified in 10%. FGFR1-related KS has an autosomal dominant inheritance with incomplete penetrance. We present a family with KS due to a novel variably penetrant FGFR1 mutation, where the presenting features included cleft lip/palate and anosmia...