Searchable abstracts of presentations at key conferences in endocrinology

ea0032p687 | Neuroendocrinology | ECE2013

Digenic and oligogenic cases in a large cohort of idiopathic central hypogonadism (ICH) patients

Libri Domenico , Bonomi Marco , Guizzardi Fabiana , Duminuco Paolo , Pincelli Ida , Russo Giovanni , Garolla Andrea , Krausz Csilla , Maghnie Mohamed , Padova Giuseppa , Persani Luca

ICH is a rare and heterogeneous condition due to defects in the onthogenesis, migration and action of GnRH secreting neurons. Recent publications indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic and oligogenic defects have been described as a possible pathogenic explanation for this disease. Among the cohort of 315 ICH patients we identified 3 KS and 7 nICH patients (7 males, 3 females) with a biallel...