Searchable abstracts of presentations at key conferences in endocrinology

ea0027p18 | (1) | BSPED2011

Novel KAL1 mutations associated with septo-optic dysplasia in three female patients

McCabe Mark , Gregory Louise , Hu Youli , Thankamony Ajay , Hughes Ieuan , Townshend Sharron , Bouloux Pierre-Marc , Dattani Mehul

Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...