Searchable abstracts of presentations at key conferences in endocrinology

ea0032p678 | Neuroendocrinology | ECE2013

Genotype and phenotype characterization of the cohort of Italian patients with idiopathic central hypogonadism (ICH)

Bonomi Marco , Vladimiro Libri Domenico , Guizzardi Fabiana , Duminuco Paolo , Agostino Sinisi Antonio , Simoni Manuela , Magnie Mohamad , Krausz Csilla , Persani Luca , On behalf of the Italian Societies for Endocrinology and Pediatric Endocrinology

ICH is a rare disease characterized by a complex pathogenesis, but with a strong genetic component. ICH may be associated to several other morphogenetic or inborn defects, such as the osmic defects that identify the Kallmann syndrome (KS). The description of several pedigrees including relatives affected either with isolated osmic defects or KS or normoosmic ICH (nICH) justifies the emerging idea of ICH as a complex genetic disease characterized by variable expressivity and pe...