Endocrine Abstracts

Introduction: Loss of anosmin-1 function underlies the pathogenesis of X-linked Kallmann's syndrome (X-KS), a disorder characterized by anosmia (loss of smell) and hypogonadotrophic hypogonadism, due to olfactory bulb (OB) dysgenesis and failed migration of gonadotrophin releasing hormone (GnRH) neurons. Additional phenotypic features include bimanual synkinesis and unilateral renal agenesis. Anosmin-1 contains a whey acidic protein-like (WAP) domain and four contiguous fibron...